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"['precise', 'O\\n']\n", + "['mechanism', 'O\\n']\n", + "['of', 'O\\n']\n", + "['this', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['(', 'O\\n']\n", + "['designated', 'O\\n']\n", + "['as', 'O\\n']\n", + "['FH', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Jalasjärvi', 'O\\n']\n", + "[')', 'O\\n']\n", + "['remains', 'O\\n']\n", + "['obscure', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['although', 'O\\n']\n", + "['it', 'O\\n']\n", + "['may', 'O\\n']\n", + "['involve', 'O\\n']\n", + "['complex', 'O\\n']\n", + "['loop', 'O\\n']\n", + "['formation', 'O\\n']\n", + "['by', 'O\\n']\n", + "['interaction', 'O\\n']\n", + "['of', 'O\\n']\n", + "['complementary', 'O\\n']\n", + "['sequences', 'O\\n']\n", + "['present', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['breakpoints', 'O\\n']\n", + "['and', 'O\\n']\n", + "['their', 'O\\n']\n", + "['immediate', 'O\\n']\n", + "['flanking', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#11359216\n", + "\n", + "['Mitochondria', 'O\\n']\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['quality', 'O\\n']\n", + "['of', 'O\\n']\n", + "['human', 'O\\n']\n", + "['gametes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#20052763\n", + "\n", + "['Ex', 'O\\n']\n", + "['vivo', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['assays', 'O\\n']\n", + "['of', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['at', 'O\\n']\n", + "['noncanonical', 'O\\n']\n", + "['positions', 'O\\n']\n", + "['of', 'O\\n']\n", + "['splice', 'O\\n']\n", + "['sites', 'O\\n']\n", + "['in', 'O\\n']\n", + "['USHER', 'B-Gene\\n']\n", + "['genes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Molecular', 'O\\n']\n", + "['diagnosis', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Usher', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['type', 'O\\n']\n", + "['1', 'O\\n']\n", + "['and', 'O\\n']\n", + "['2', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['led', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['21', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['variations', 'O\\n']\n", + "['located', 'O\\n']\n", + "['in', 'O\\n']\n", + "['noncanonical', 'O\\n']\n", + "['positions', 'O\\n']\n", + "['of', 'O\\n']\n", + "['splice', 'O\\n']\n", + "['sites', 'O\\n']\n", + "['in', 'O\\n']\n", + "['MYO7A', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['CDH23', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['USH1C', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['and', 'O\\n']\n", + "['USH2A', 'B-Gene\\n']\n", + "['genes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['To', 'O\\n']\n", + "['establish', 'O\\n']\n", + "['experimentally', 'O\\n']\n", + "['the', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['pattern', 'O\\n']\n", + "['of', 'O\\n']\n", + "['these', 'O\\n']\n", + "['substitutions', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['whose', 'O\\n']\n", + "['impact', 'O\\n']\n", + "['on', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['is', 'O\\n']\n", + "['not', 'O\\n']\n", + "['always', 'O\\n']\n", + "['predictable', 'O\\n']\n", + "['by', 'O\\n']\n", + "['available', 'O\\n']\n", + "['softwares', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['ex', 'O\\n']\n", + "['vivo', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['assays', 'O\\n']\n", + "['were', 'O\\n']\n", + "['performed', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['branch', 'O\\n']\n", + "['-', 'O\\n']\n", + "['point', 'O\\n']\n", + "['mapping', 'O\\n']\n", + "['strategy', 'O\\n']\n", + "['was', 'O\\n']\n", + "['also', 'O\\n']\n", + "['used', 'O\\n']\n", + "['to', 'O\\n']\n", + "['investigate', 'O\\n']\n", + "['further', 'O\\n']\n", + "['a', 'O\\n']\n", + "['putative', 'O\\n']\n", + "['branch', 'O\\n']\n", + "['-', 'O\\n']\n", + "['point', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['USH2A', 'O\\n']\n", + "['intron', 'O\\n']\n", + "['43', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Aberrant', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['was', 'O\\n']\n", + "['demonstrated', 'O\\n']\n", + "['for', 'O\\n']\n", + "['16', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['21', 'O\\n']\n", + "['(', 'O\\n']\n", + "['76.2', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "['tested', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['variations', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['resulted', 'O\\n']\n", + "['more', 'O\\n']\n", + "['frequently', 'O\\n']\n", + "['in', 'O\\n']\n", + "['activation', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['nearby', 'O\\n']\n", + "['cryptic', 'O\\n']\n", + "['splice', 'O\\n']\n", + "['site', 'O\\n']\n", + "['or', 'O\\n']\n", + "['use', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['de', 'O\\n']\n", + "['novo', 'O\\n']\n", + "['splice', 'O\\n']\n", + "['site', 'O\\n']\n", + "['than', 'O\\n']\n", + "['exon', 'O\\n']\n", + "['skipping', 'O\\n']\n", + "['(', 'O\\n']\n", + "['37.5', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['This', 'O\\n']\n", + "['study', 'O\\n']\n", + "['allowed', 'O\\n']\n", + "['the', 'O\\n']\n", + "['reclassification', 'O\\n']\n", + "['as', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['of', 'O\\n']\n", + "['one', 'O\\n']\n", + "['silent', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.7872G', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Glu2624Glu', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['in', 'O\\n']\n", + "['CDH23', 'B-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['and', 'O\\n']\n", + "['four', 'O\\n']\n", + "['missense', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.2993G', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Arg998Lys', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['in', 'O\\n']\n", + "['USH2A', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['c.592G', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Ala198Thr', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['c.3503G', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['C', 'I-SNP\\n']\n", + "[' ', ' \\n']\n", + "['[', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Arg1168Pro', 'I-SNP\\n']\n", + "[']', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['c.5944G', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Gly1982Arg', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['in', 'O\\n']\n", + "['MYO7A', 'B-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['whereas', 'O\\n']\n", + "['it', 'O\\n']\n", + "['provided', 'O\\n']\n", + "['clues', 'O\\n']\n", + "['about', 'O\\n']\n", + "['a', 'O\\n']\n", + "['role', 'O\\n']\n", + "['in', 'O\\n']\n", + "['structure', 'O\\n']\n", + "['/', 'O\\n']\n", + "['function', 'O\\n']\n", + "['in', 'O\\n']\n", + "['four', 'O\\n']\n", + "['other', 'O\\n']\n", + "['cases', 'O\\n']\n", + "[':', 'O\\n']\n", + "['c.802G', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "[' ', ' \\n']\n", + "['A', 'B-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Gly268Arg', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['c.653T', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Val218Glu', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['(', 'B-Gene\\n']\n", + "['USH2A', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['c.397C', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['His133Tyr', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['c.3502C', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['Arg1168Trp', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "[' ', ' \\n']\n", + "['(', 'B-Gene\\n']\n", + "['MYO7A', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Our', 'O\\n']\n", + "['data', 'O\\n']\n", + "['provide', 'O\\n']\n", + "['insights', 'O\\n']\n", + "['into', 'O\\n']\n", + "['the', 'O\\n']\n", + "['contribution', 'O\\n']\n", + "['of', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Usher', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['and', 'O\\n']\n", + "['illustrate', 'O\\n']\n", + "['the', 'O\\n']\n", + "['need', 'O\\n']\n", + "['to', 'O\\n']\n", + "['define', 'O\\n']\n", + "['accurately', 'O\\n']\n", + "['their', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['outcome', 'O\\n']\n", + "['for', 'O\\n']\n", + "['diagnostic', 'O\\n']\n", + "['purposes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#1301930\n", + "\n", + "['A', 'O\\n']\n", + "['comprehensive', 'O\\n']\n", + "['scanning', 'O\\n']\n", + "['method', 'O\\n']\n", + "['for', 'O\\n']\n", + "['rapid', 'O\\n']\n", + "['detection', 'O\\n']\n", + "['of', 'O\\n']\n", + "['beta', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['globin', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['and', 'O\\n']\n", + "['polymorphisms', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['describe', 'O\\n']\n", + "['a', 'O\\n']\n", + "['scanning', 'O\\n']\n", + "['procedure', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['detection', 'O\\n']\n", + "['of', 'O\\n']\n", + "['beta', 'O\\n']\n", + "['-', 'O\\n']\n", + "['globin', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['prenatal', 'O\\n']\n", + "['diagnosis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['beta', 'O\\n']\n", + "['-', 'O\\n']\n", + "['thalassemias', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['method', 'O\\n']\n", + "['is', 'O\\n']\n", + "['based', 'O\\n']\n", + "['on', 'O\\n']\n", + "['the', 'O\\n']\n", + "['combined', 'O\\n']\n", + "['use', 'O\\n']\n", + "['of', 'O\\n']\n", + "['PCR', 'O\\n']\n", + "['and', 'O\\n']\n", + "['denaturing', 'O\\n']\n", + "['gradient', 'O\\n']\n", + "['gel', 'O\\n']\n", + "['electrophoresis', 'O\\n']\n", + "['(', 'O\\n']\n", + "['DGGE', 'O\\n']\n", + "[')', 'O\\n']\n", + "['of', 'O\\n']\n", + "['six', 'O\\n']\n", + "['amplified', 'O\\n']\n", + "['fragments', 'O\\n']\n", + "['encompassing', 'O\\n']\n", + "['the', 'O\\n']\n", + "['whole', 'O\\n']\n", + "['beta', 'O\\n']\n", + "['-', 'O\\n']\n", + "['globin', 'O\\n']\n", + "['coding', 'O\\n']\n", + "['region', 'O\\n']\n", + "['and', 'O\\n']\n", + "['splice', 'O\\n']\n", + "['junctions', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['as', 'O\\n']\n", + "['well', 'O\\n']\n", + "['as', 'O\\n']\n", + "['the', 'O\\n']\n", + "['promoter', 'O\\n']\n", + "['and', 'O\\n']\n", + "['3', 'O\\n']\n", + "[\"'\", 'O\\n']\n", + "['untranslated', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['whole', 'O\\n']\n", + "['beta', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['globin', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['can', 'O\\n']\n", + "['be', 'O\\n']\n", + "['rapidly', 'O\\n']\n", + "['scanned', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['presence', 'O\\n']\n", + "['of', 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"['defect', 'O\\n']\n", + "['in', 'O\\n']\n", + "['endochondral', 'O\\n']\n", + "['ossification', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Here', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['report', 'O\\n']\n", + "['observations', 'O\\n']\n", + "['of', 'O\\n']\n", + "['growth', 'O\\n']\n", + "['-', 'O\\n']\n", + "['plate', 'O\\n']\n", + "['abnormalities', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['patient', 'O\\n']\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['RUNX2', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['a', 'O\\n']\n", + "['single', 'O\\n']\n", + "['C', 'O\\n']\n", + "['insertion', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['1228insC', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['is', 'O\\n']\n", + "['predicted', 'O\\n']\n", + "['to', 'O\\n']\n", + "['lead', 'O\\n']\n", + "['to', 'O\\n']\n", + "['a', 'O\\n']\n", + "['premature', 'O\\n']\n", + "['termination', 'O\\n']\n", + "['codon', 'O\\n']\n", + "['and', 'O\\n']\n", + "['thus', 'O\\n']\n", + "['to', 'O\\n']\n", + "['haploinsufficiency', 'O\\n']\n", + "['of', 'O\\n']\n", + "['RUNX2', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['CCD', 'O\\n']\n", + "['phenotype', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Histological', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['rib', 'O\\n']\n", + "['and', 'O\\n']\n", + "['long', 'O\\n']\n", + "['-', 'O\\n']\n", + "['bone', 'O\\n']\n", + "['cartilages', 'O\\n']\n", + "['showed', 'O\\n']\n", + "['a', 'O\\n']\n", + "['markedly', 'O\\n']\n", + "['diminished', 'O\\n']\n", + "['zone', 'O\\n']\n", + "['of', 'O\\n']\n", + "['hypertrophy', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Quantitative', 'O\\n']\n", + "['real', 'O\\n']\n", + "['-', 'O\\n']\n", + "['time', 'O\\n']\n", + "['reverse', 'O\\n']\n", + "['transcription', 'O\\n']\n", + "['-', 'O\\n']\n", + "['polymerase', 'O\\n']\n", + "['chain', 'O\\n']\n", + "['reaction', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['limb', 'O\\n']\n", + "['cartilage', 'O\\n']\n", + "['RNA', 'O\\n']\n", + "['showed', 'O\\n']\n", + "['a', 'O\\n']\n", + "['5', 'O\\n']\n", + "['-', 'O\\n']\n", + "['10', 'O\\n']\n", + "['-', 'O\\n']\n", + "['fold', 'O\\n']\n", + "['decrease', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['hypertrophic', 'O\\n']\n", + "['chondrocyte', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['VEGF', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['MMP13', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['and', 'O\\n']\n", + "['COL10A1', 'B-Gene\\n']\n", + "['.', 'I-Gene\\n']\n", + "[' ', ' \\n']\n", + "['Together', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['these', 'O\\n']\n", + "['data', 'O\\n']\n", + "['show', 'O\\n']\n", + "['that', 'O\\n']\n", + "['humans', 'O\\n']\n", + "['with', 'O\\n']\n", + "['CCD', 'O\\n']\n", + "['have', 'O\\n']\n", + "['altered', 'O\\n']\n", + "['endochondral', 'O\\n']\n", + "['ossification', 'O\\n']\n", + "['due', 'O\\n']\n", + "['to', 'O\\n']\n", + "['altered', 'O\\n']\n", + "['RUNX2', 'B-Gene\\n']\n", + "['regulation', 'O\\n']\n", + "['of', 'O\\n']\n", + "['hypertrophic', 'O\\n']\n", + "['chondrocyte', 'O\\n']\n", + "['-', 'O\\n']\n", + "['specific', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['during', 'O\\n']\n", + "['chondrocyte', 'O\\n']\n", + "['maturation', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#10915611\n", + "\n", + "['Rare', 'O\\n']\n", + "['etiology', 'O\\n']\n", + "['of', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['child', 'O\\n']\n", + "['with', 'O\\n']\n", + "['noncarrier', 'O\\n']\n", + "['parents', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['A', 'O\\n']\n", + "['child', 'O\\n']\n", + "['with', 'O\\n']\n", + "['maple', 'O\\n']\n", + "['syrup', 'O\\n']\n", + "['urine', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['type', 'O\\n']\n", + "['2', 'O\\n']\n", + "['(', 'O\\n']\n", + "['MSUD2', 'O\\n']\n", + "[')', 'O\\n']\n", + "['was', 'O\\n']\n", + "['found', 'O\\n']\n", + "['to', 'O\\n']\n", + "['be', 'O\\n']\n", + "['homozygous', 'O\\n']\n", + "['for', 'O\\n']\n", + "['a', 'O\\n']\n", + "['10', 'O\\n']\n", + "['-', 'O\\n']\n", + "['bp', 'O\\n']\n", + "['MSUD2', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['on', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['1', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Both', 'O\\n']\n", + "['purported', 'O\\n']\n", + "['parents', 'O\\n']\n", + "['were', 'O\\n']\n", + "['tested', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['neither', 'O\\n']\n", + "['carries', 'O\\n']\n", + "['the', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Polymorphic', 'O\\n']\n", + "['simple', 'O\\n']\n", + "['-', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['repeat', 'O\\n']\n", + "['analyses', 'O\\n']\n", + "['at', 'O\\n']\n", + "['15', 'O\\n']\n", + "['loci', 'O\\n']\n", + "['on', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['1', 'O\\n']\n", + "['and', 'O\\n']\n", + "['at', 'O\\n']\n", + "['16', 'O\\n']\n", + "['loci', 'O\\n']\n", + "['on', 'O\\n']\n", + "['other', 'O\\n']\n", + "['chromosomes', 'O\\n']\n", + "['confirmed', 'O\\n']\n", + "['parentage', 'O\\n']\n", + "['and', 'O\\n']\n", + "['revealed', 'O\\n']\n", + "['that', 'O\\n']\n", + "['a', 'O\\n']\n", + "['de', 'O\\n']\n", + "['novo', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['prior', 'O\\n']\n", + "['to', 'O\\n']\n", + "['maternal', 'O\\n']\n", + "['meiosis', 'O\\n']\n", + "['I', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['followed', 'O\\n']\n", + "['by', 'O\\n']\n", + "['nondisjunction', 'O\\n']\n", + "['in', 'O\\n']\n", + "['maternal', 'O\\n']\n", + "['meiosis', 'O\\n']\n", + "['II', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['resulted', 'O\\n']\n", + "['in', 'O\\n']\n", + "['an', 'O\\n']\n", + "['oocyte', 'O\\n']\n", + "['with', 'O\\n']\n", + "['two', 'O\\n']\n", + "['copies', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['de', 'O\\n']\n", + "['novo', 'O\\n']\n", + "['mutant', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Fertilization', 'O\\n']\n", + "['by', 'O\\n']\n", + "['a', 'O\\n']\n", + "['sperm', 'O\\n']\n", + "['that', 'O\\n']\n", + "['did', 'O\\n']\n", + "['not', 'O\\n']\n", + "['carry', 'O\\n']\n", + "['a', 'O\\n']\n", + "['paternal', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['1', 'O\\n']\n", + "['or', 'O\\n']\n", + 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', ' \\n']\n", + "Document Tag detected\n", + "#15580547\n", + "\n", + "['Identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['3.0', 'O\\n']\n", + "['-', 'O\\n']\n", + "['kb', 'O\\n']\n", + "['major', 'O\\n']\n", + "['recombination', 'O\\n']\n", + "['hotspot', 'O\\n']\n", + "['in', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['Sotos', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['who', 'O\\n']\n", + "['carry', 'O\\n']\n", + "['a', 'O\\n']\n", + "['common', 'O\\n']\n", + "['1.9', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Mb', 'O\\n']\n", + "['microdeletion', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Sotos', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['(', 'O\\n']\n", + "['SoS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['congenital', 'O\\n']\n", + "['dysmorphic', 'O\\n']\n", + "['disorder', 'O\\n']\n", + "['characterized', 'O\\n']\n", + "['by', 'O\\n']\n", + "['overgrowth', 'O\\n']\n", + 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\\n']\n", + "['We', 'O\\n']\n", + "['found', 'O\\n']\n", + "['significant', 'O\\n']\n", + "['association', 'O\\n']\n", + "['between', 'O\\n']\n", + "['SNP', 'O\\n']\n", + "['rs2297660', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['LRP8', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['and', 'O\\n']\n", + "['birth', 'O\\n']\n", + "['weight', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Subsequently', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['replicated', 'O\\n']\n", + "['the', 'O\\n']\n", + "['association', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['larger', 'O\\n']\n", + "['independent', 'O\\n']\n", + "['sample', 'O\\n']\n", + "['of', 'O\\n']\n", + "Komma Detected\n", + "1,094,O\n", + "\n", + "['black', 'O\\n']\n", + "['women', 'O\\n']\n", + "[';', 'O\\n']\n", + "['similar', 'O\\n']\n", + "['association', 'O\\n']\n", + "['between', 'O\\n']\n", + "['LRP8', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + 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",,O\n", + "\n", + "['residing', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['very', 'O\\n']\n", + "['small', 'O\\n']\n", + "['area', 'O\\n']\n", + "['of', 'O\\n']\n", + "['northern', 'O\\n']\n", + "['Israel', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Since', 'O\\n']\n", + "['such', 'O\\n']\n", + "['clustering', 'O\\n']\n", + "['suggests', 'O\\n']\n", + "['a', 'O\\n']\n", + "['classic', 'O\\n']\n", + "['founder', 'O\\n']\n", + "['effect', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['presence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['three', 'O\\n']\n", + "['mutant', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['IDUA', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['was', 'O\\n']\n", + "['unexpected', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#10762557\n", + "\n", + "['Complement', 'B-Gene\\n']\n", + "['factor', 'I-Gene\\n']\n", + "['H', 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\\n']\n", + "['Abnormal', 'O\\n']\n", + "['phenotypes', 'O\\n']\n", + "['have', 'O\\n']\n", + "['played', 'O\\n']\n", + "['significant', 'O\\n']\n", + "['roles', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['discovery', 'O\\n']\n", + "['of', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['function', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['but', 'O\\n']\n", + "['organized', 'O\\n']\n", + "['collection', 'O\\n']\n", + "['of', 'O\\n']\n", + "['phenotype', 'O\\n']\n", + "['data', 'O\\n']\n", + "['has', 'O\\n']\n", + "['been', 'O\\n']\n", + "['overshadowed', 'O\\n']\n", + "['by', 'O\\n']\n", + "['developments', 'O\\n']\n", + "['in', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "['technology', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['order', 'O\\n']\n", + "['to', 'O\\n']\n", + "['study', 'O\\n']\n", + "['phenotypes', 'O\\n']\n", + "['systematically', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['large', 'O\\n']\n", 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"['by', 'O\\n']\n", + "['SSCP', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#12687502\n", + "\n", + "['Preferential', 'O\\n']\n", + "['paternal', 'O\\n']\n", + "['origin', 'O\\n']\n", + "['of', 'O\\n']\n", + "['microdeletions', 'O\\n']\n", + "['caused', 'O\\n']\n", + "['by', 'O\\n']\n", + "['prezygotic', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['or', 'O\\n']\n", + "['chromatid', 'O\\n']\n", + "['rearrangements', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Sotos', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Sotos', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['(', 'O\\n']\n", + "['SoS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['is', 'O\\n']\n", + "['characterized', 'O\\n']\n", + "['by', 'O\\n']\n", + "['pre-', 'O\\n']\n", + "['and', 'O\\n']\n", + "['postnatal', 'O\\n']\n", + "['overgrowth', 'O\\n']\n", + "['with', 'O\\n']\n", + "['advanced', 'O\\n']\n", + "['bone', 'O\\n']\n", + "['age', 'O\\n']\n", + "[';', 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', ' \\n']\n", + "['The', 'O\\n']\n", + "['finding', 'O\\n']\n", + "['of', 'O\\n']\n", + "['partial', 'O\\n']\n", + "['laminin', 'O\\n']\n", + "['alpha2', 'B-Gene\\n']\n", + "['deficiency', 'O\\n']\n", + "['by', 'O\\n']\n", + "['immunostaining', 'O\\n']\n", + "['is', 'O\\n']\n", + "['not', 'O\\n']\n", + "['specific', 'O\\n']\n", + "['for', 'O\\n']\n", + "['laminin', 'O\\n']\n", + "['alpha2', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['carriers', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['with', 'O\\n']\n", + "['only', 'O\\n']\n", + "['two', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['(', 'O\\n']\n", + "['22', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "['showing', 'O\\n']\n", + "['clear', 'O\\n']\n", + "['causative', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['an', 'O\\n']\n", + "['additional', 'O\\n']\n", + "['three', 'O\\n']\n", + "['patients', 'O\\n']\n", + 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"['homo-', 'O\\n']\n", + "['and', 'O\\n']\n", + "['heteromeric', 'O\\n']\n", + "['channels', 'O\\n']\n", + "['in', 'O\\n']\n", + "['all', 'O\\n']\n", + "['five', 'O\\n']\n", + "['mutants', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['but', 'O\\n']\n", + "['incubation', 'O\\n']\n", + "['at', 'O\\n']\n", + "['27', 'O\\n']\n", + "['degrees', 'O\\n']\n", + "['C', 'O\\n']\n", + "['combined', 'O\\n']\n", + "['with', 'O\\n']\n", + "['coexpression', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['B3', 'O\\n']\n", + "['subunit', 'O\\n']\n", + "['restored', 'O\\n']\n", + "['residual', 'O\\n']\n", + "['function', 'O\\n']\n", + "['of', 'O\\n']\n", + "['channels', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['S341P', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['G367V', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['and', 'O\\n']\n", + "['E376K.', 'B-SNP\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#9382104\n", + "\n", + "['A', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['locus', 'O\\n']\n", + "['for', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['dominant', 'O\\n']\n", + "['nonsyndromic', 'O\\n']\n", + "['hearing', 'O\\n']\n", + "['loss', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['DFNA13', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['maps', 'O\\n']\n", + "['to', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['6p', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Nonsyndromic', 'O\\n']\n", + "['hearing', 'O\\n']\n", + "['loss', 'O\\n']\n", + "['(', 'O\\n']\n", + "['NSHL', 'O\\n']\n", + "[')', 'O\\n']\n", + "['is', 'O\\n']\n", + "['the', 'O\\n']\n", + "['most', 'O\\n']\n", + "['common', 'O\\n']\n", + "['type', 'O\\n']\n", + "['of', 'O\\n']\n", + "['hearing', 'O\\n']\n", + "['impairment', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['elderly', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Environmental', 'O\\n']\n", + "['and', 'O\\n']\n", + "['hereditary', 'O\\n']\n", + "['factors', 'O\\n']\n", + "['play', 'O\\n']\n", + "['an', 'O\\n']\n", + "['etiologic', 'O\\n']\n", + "['role', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['although', 'O\\n']\n", + "['the', 'O\\n']\n", + "['relative', 'O\\n']\n", + "['contribution', 'O\\n']\n", + "['of', 'O\\n']\n", + "['each', 'O\\n']\n", + "['is', 'O\\n']\n", + "['unknown', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['To', 'O\\n']\n", + "['date', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['39', 'O\\n']\n", + "['NSHL', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['localized', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Twelve', 'O\\n']\n", + "['produce', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['dominant', 'O\\n']\n", + "['hearing', 'O\\n']\n", + "['loss', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + 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"['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['2d-4th', 'O\\n']\n", + "['decades', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['eventually', 'O\\n']\n", + "['making', 'O\\n']\n", + "['the', 'O\\n']\n", + "['use', 'O\\n']\n", + "['of', 'O\\n']\n", + "['amplification', 'O\\n']\n", + "['mandatory', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['A', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['locus', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['DFNA13', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['was', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['on', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['6p', 'O\\n']\n", + "[';', 'O\\n']\n", + "['the', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['maps', 'O\\n']\n", + "['to', 'O\\n']\n", + "['a', 'O\\n']\n", + "['4', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cM', 'O\\n']\n", + "['interval', 'O\\n']\n", + "['flanked', 'O\\n']\n", + "['by', 'O\\n']\n", + "['D6S1663', 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+ "['were', 'O\\n']\n", + "['hybridized', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['array', 'O\\n']\n", + "['using', 'O\\n']\n", + "['a', 'O\\n']\n", + "['high', 'O\\n']\n", + "['-', 'O\\n']\n", + "['throughput', 'O\\n']\n", + "['protocol', 'O\\n']\n", + "['for', 'O\\n']\n", + "['target', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['amplification', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['pooling', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['hybridization', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['A', 'O\\n']\n", + "['Web', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['application', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['SNP', 'O\\n']\n", + "['Explorer', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['was', 'O\\n']\n", + "['developed', 'O\\n']\n", + "['to', 'O\\n']\n", + "['directly', 'O\\n']\n", + "['analyze', 'O\\n']\n", + "['and', 'O\\n']\n", + "['visualize', 'O\\n']\n", + "['the', 'O\\n']\n", + "['single', 'O\\n']\n", + "['nucleotide', 'O\\n']\n", + "['polymorphism', 'O\\n']\n", + "['(', 'O\\n']\n", + "['SNP', 'O\\n']\n", + "[')', 'O\\n']\n", + "['annotation', 'O\\n']\n", + "['and', 'O\\n']\n", + "['for', 'O\\n']\n", + "['quality', 'O\\n']\n", + "['filtering', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Several', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['known', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['-', 'O\\n']\n", + "['susceptibility', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['such', 'O\\n']\n", + "['as', 'O\\n']\n", + "['CD40LG', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['TNFRSF13B', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['IKBKG', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['AICDA', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['as', 'O\\n']\n", + "['well', 'O\\n']\n", + "['as', 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",,O\n", + "\n", + "['these', 'O\\n']\n", + "['four', 'O\\n']\n", + "['cell', 'O\\n']\n", + "['strains', 'O\\n']\n", + "['exhibited', 'O\\n']\n", + "['lactate', 'O\\n']\n", + "['/', 'O\\n']\n", + "['pyruvate', 'O\\n']\n", + "['ratios', 'O\\n']\n", + "['that', 'O\\n']\n", + "['were', 'O\\n']\n", + "['six', 'O\\n']\n", + "['times', 'O\\n']\n", + "['greater', 'O\\n']\n", + "['than', 'O\\n']\n", + "['those', 'O\\n']\n", + "['of', 'O\\n']\n", + "['controls', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['On', 'O\\n']\n", + "['further', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['enzymatic', 'O\\n']\n", + "['activities', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['pyruvate', 'O\\n']\n", + "['dehydrogenase', 'O\\n']\n", + "['complex', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['2', 'O\\n']\n", + "['-', 'O\\n']\n", + "['oxoglutarate', 'O\\n']\n", + "['dehydrogenase', 'O\\n']\n", + 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"['most', 'O\\n']\n", + "['frequent', 'O\\n']\n", + "['causes', 'O\\n']\n", + "['of', 'O\\n']\n", + "['LCA', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['so', 'O\\n']\n", + "['far', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#15154117\n", + "\n", + "['A', 'O\\n']\n", + "['common', 'O\\n']\n", + "['haplotype', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['nicotine', 'B-Gene\\n']\n", + "['acetylcholine', 'I-Gene\\n']\n", + "['receptor', 'I-Gene\\n']\n", + "['alpha', 'I-Gene\\n']\n", + "['4', 'I-Gene\\n']\n", + "['subunit', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['is', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['vulnerability', 'O\\n']\n", + "['to', 'O\\n']\n", + "['nicotine', 'O\\n']\n", + "['addiction', 'O\\n']\n", + "['in', 'O\\n']\n", + "['men', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Nicotine', 'O\\n']\n", + "['is', 'O\\n']\n", + "['the', 'O\\n']\n", + "['major', 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+ "['(', 'O\\n']\n", + "['621', 'O\\n']\n", + "['men', 'O\\n']\n", + "['from', 'O\\n']\n", + "['206', 'O\\n']\n", + "['families', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Univariate', 'O\\n']\n", + "['(', 'O\\n']\n", + "['single', 'O\\n']\n", + "['-', 'O\\n']\n", + "['marker', 'O\\n']\n", + "[')', 'O\\n']\n", + "['family', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['association', 'O\\n']\n", + "['tests', 'O\\n']\n", + "['(', 'O\\n']\n", + "['FBATs', 'O\\n']\n", + "[')', 'O\\n']\n", + "['demonstrated', 'O\\n']\n", + "['that', 'O\\n']\n", + "['variant', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['at', 'O\\n']\n", + "['two', 'O\\n']\n", + "['SNPs', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['rs1044396', 'O\\n']\n", + "['and', 'O\\n']\n", + "['rs1044397', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['in', 'O\\n']\n", + "['exon', 'O\\n']\n", + "['5', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + 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"['results', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['global', 'O\\n']\n", + "['haplotype', 'O\\n']\n", + "['FBAT', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Furthermore', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['haplotype', 'O\\n']\n", + "['-', 'O\\n']\n", + "['specific', 'O\\n']\n", + "['FBAT', 'O\\n']\n", + "['showed', 'O\\n']\n", + "['a', 'O\\n']\n", + "['common', 'O\\n']\n", + "['(', 'O\\n']\n", + "['22.5', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "['CHRNA4', 'B-Gene\\n']\n", + "['haplotype', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['GCTATA', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['was', 'O\\n']\n", + "['significantly', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['both', 'O\\n']\n", + "['a', 'O\\n']\n", + "['protective', 'O\\n']\n", + "['effect', 'O\\n']\n", + "['against', 'O\\n']\n", + "['nicotine', 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"['region', 'O\\n']\n", + "['to', 'O\\n']\n", + "['genotype', 'O\\n']\n", + "Komma Detected\n", + "1,939,O\n", + "\n", + "['elderly', 'O\\n']\n", + "['men', 'O\\n']\n", + "['and', 'O\\n']\n", + "['women', 'O\\n']\n", + "['from', 'O\\n']\n", + "['a', 'O\\n']\n", + "['large', 'O\\n']\n", + "['population', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['prospective', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cohort', 'O\\n']\n", + "['study', 'O\\n']\n", + "['of', 'O\\n']\n", + "['Dutch', 'O\\n']\n", + "['whites', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['A', 'O\\n']\n", + "['3', 'O\\n']\n", + "['-', 'O\\n']\n", + "['bp', 'O\\n']\n", + "['insertion', 'O\\n']\n", + "['(', 'O\\n']\n", + "['f=0.38', 'O\\n']\n", + "[')', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['presumed', 'O\\n']\n", + "['SOST', 'B-Gene\\n']\n", + "['promoter', 'O\\n']\n", + "['region', 'O\\n']\n", + "['(', 'B-Gene\\n']\n", + "['SRP3', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", 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', ' \\n']\n", + "['The', 'O\\n']\n", + "['maximum', 'O\\n']\n", + "['LOD', 'O\\n']\n", + "['score', 'O\\n']\n", + "['was', 'O\\n']\n", + "['5.00', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['with', 'O\\n']\n", + "['marker', 'O\\n']\n", + "['D18S1099', 'O\\n']\n", + "['(', 'O\\n']\n", + "['recombination', 'O\\n']\n", + "['fraction', 'O\\n']\n", + "['of', 'O\\n']\n", + "['.001', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Analysis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['critical', 'O\\n']\n", + "['recombinants', 'O\\n']\n", + "['places', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FJP', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['in', 'O\\n']\n", + "['an', 'O\\n']\n", + "['11.9', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cM', 'O\\n']\n", + "['interval', 'O\\n']\n", + "['bounded', 'O\\n']\n", + "['by', 'O\\n']\n", + "['D18S1118', 'O\\n']\n", + "['and', 'O\\n']\n", + "['D18S487', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['a', 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+ "['patients', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['All', 'O\\n']\n", + "['these', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['are', 'O\\n']\n", + "['probably', 'O\\n']\n", + "['rare', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['population', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['as', 'O\\n']\n", + "['no', 'O\\n']\n", + "['additional', 'O\\n']\n", + "['examples', 'O\\n']\n", + "['were', 'O\\n']\n", + "['found', 'O\\n']\n", + "['for', 'O\\n']\n", + "['any', 'O\\n']\n", + "['of', 'O\\n']\n", + "['them', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['cohort', 'O\\n']\n", + "['of', 'O\\n']\n", + "['545', 'O\\n']\n", + "['CF', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Our', 'O\\n']\n", + "['study', 'O\\n']\n", + "['also', 'O\\n']\n", + "['revealed', 'O\\n']\n", + "['a', 'O\\n']\n", + "['benign', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['variation', 'O\\n']\n", + "['(', 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"['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['decrease', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['iron', 'B-Gene\\n']\n", + "['regulatory', 'I-Gene\\n']\n", + "['protein', 'I-Gene\\n']\n", + "['IRP1', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + "['intracellular', 'O\\n']\n", + "['iron', 'O\\n']\n", + "['overload', 'O\\n']\n", + "['in', 'O\\n']\n", + "['skeletal', 'O\\n']\n", + "['muscle', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['consistent', 'O\\n']\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['muscle', 'O\\n']\n", + "['-', 'O\\n']\n", + "['specific', 'O\\n']\n", + "['alteration', 'O\\n']\n", + "['of', 'O\\n']\n", + "['iron', 'O\\n']\n", + "['homeostasis', 'O\\n']\n", + "['in', 'O\\n']\n", + "['this', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['ISCU', 'B-Gene\\n']\n", + "['interacts', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['Friedreich', 'O\\n']\n", + "['ataxia', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['product', 'O\\n']\n", + "['frataxin', 'O\\n']\n", + "['in', 'O\\n']\n", + "['iron', 'O\\n']\n", + "['-', 'O\\n']\n", + "['sulfur', 'O\\n']\n", + "['cluster', 'O\\n']\n", + "['biosynthesis', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Our', 'O\\n']\n", + "['results', 'O\\n']\n", + "['therefore', 'O\\n']\n", + "['extend', 'O\\n']\n", + "['the', 'O\\n']\n", + "['range', 'O\\n']\n", + "['of', 'O\\n']\n", + "['known', 'O\\n']\n", + "['human', 'O\\n']\n", + "['diseases', 'O\\n']\n", + "['that', 'O\\n']\n", + "['are', 'O\\n']\n", + "['caused', 'O\\n']\n", + "['by', 'O\\n']\n", + "['defects', 'O\\n']\n", + "['in', 'O\\n']\n", + "['iron', 'O\\n']\n", + "['-', 'O\\n']\n", + "['sulfur', 'O\\n']\n", + "['cluster', 'O\\n']\n", + "['biogenesis', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#9463308\n", + "\n", + "['Susceptibility', 'O\\n']\n", + "['to', 'O\\n']\n", + "['relapsing', 'O\\n']\n", + "['-', 'O\\n']\n", + "['progressive', 'O\\n']\n", + "['multiple', 'O\\n']\n", + "['sclerosis', 'O\\n']\n", + "['is', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['inheritance', 'O\\n']\n", + "['of', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['variable', 'O\\n']\n", + "['region', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['TcR', 'O\\n']\n", + "['beta', 'O\\n']\n", + "['locus', 'O\\n']\n", + "[':', 'O\\n']\n", + "['use', 'O\\n']\n", + "['of', 'O\\n']\n", + "['affected', 'O\\n']\n", + "['family', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['controls', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['tested', 'O\\n']\n", + "['the', 'O\\n']\n", + "['hypothesis', 'O\\n']\n", + "['that', 'O\\n']\n", + "['susceptibility', 'O\\n']\n", + "['to', 'O\\n']\n", + "['relapsing', 'O\\n']\n", + "['-', 'O\\n']\n", + "['progressive', 'O\\n']\n", + "['(', 'O\\n']\n", + "['RP', 'O\\n']\n", + "[')', 'O\\n']\n", + "['(', 'O\\n']\n", + "['but', 'O\\n']\n", + "['not', 'O\\n']\n", + "['to', 'O\\n']\n", + "['relapsing', 'O\\n']\n", + "['-', 'O\\n']\n", + "['remitting', 'O\\n']\n", + "['[', 'O\\n']\n", + "['RR', 'O\\n']\n", + "[']', 'O\\n']\n", + "[')', 'O\\n']\n", + "['multiple', 'O\\n']\n", + "['sclerosis', 'O\\n']\n", + "['(', 'O\\n']\n", + "['MS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['is', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['TcR', 'O\\n']\n", + "['beta', 'O\\n']\n", + "['-', 'O\\n']\n", + "['chain', 'O\\n']\n", + "['variable', 'O\\n']\n", + "['region', 'O\\n']\n", + "['delimited', 'O\\n']\n", + "['by', 'O\\n']\n", + "['the', 'O\\n']\n", + "['Vbeta8', 'O\\n']\n", + "['-', 'O\\n']\n", + "['BamHI', 'O\\n']\n", + "['and', 'O\\n']\n", + "['Vbeta11', 'O\\n']\n", + "['-', 'O\\n']\n", + "['BamHI', 'O\\n']\n", + "['RFLP', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['in', 'O\\n']\n", + "['DRw15', 'O\\n']\n", + "['+', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['patients', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['using', 'O\\n']\n", + "['a', 'O\\n']\n", + "['contingency', 'O\\n']\n", + "['-', 'O\\n']\n", + "['table', 'O\\n']\n", + "['test', 'O\\n']\n", + "['of', 'O\\n']\n", + "['patient', 'O\\n']\n", + "['data', 'O\\n']\n", + "['and', 'O\\n']\n", + "['affected', 'O\\n']\n", + "['family', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['controls', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Control', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['and', 'O\\n']\n", + "['haplotypes', 'O\\n']\n", + "['were', 'O\\n']\n", + "['composed', 'O\\n']\n", + "['of', 'O\\n']\n", + "['parental', 'O\\n']\n", + "['marker', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['and', 'O\\n']\n", + "['haplotypes', 'O\\n']\n", + "['not', 'O\\n']\n", + "['transmitted', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['affected', 'O\\n']\n", + "['child', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['in', 'O\\n']\n", + "['90', 'O\\n']\n", + "['simplex', 'O\\n']\n", + "['and', 'O\\n']\n", + "['31', 'O\\n']\n", + "['multiplex', 'O\\n']\n", + "['families', 'O\\n']\n", + "['from', 'O\\n']\n", + "['British', 'O\\n']\n", + "['Columbia', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['A', 'O\\n']\n", + "['total', 'O\\n']\n", + "['of', 'O\\n']\n", + "Komma Detected\n", + "6,164,O\n", + "\n", + "['alleles', 'O\\n']\n", + "['at', 'O\\n']\n", + "['11', 'O\\n']\n", + "['loci', 'O\\n']\n", + "['were', 'O\\n']\n", + "['segregated', 'O\\n']\n", + "['through', 'O\\n']\n", + "['families', 'O\\n']\n", + "['of', 'O\\n']\n", + "['probands', 'O\\n']\n", + "['with', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['or', 'O\\n']\n", + "['RR', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['Vbeta8', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Vbeta11', 'O\\n']\n", + "['subhaplotype', 'O\\n']\n", + "['frequencies', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['DRw15', 'O\\n']\n", + "['+', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['(', 'O\\n']\n", + "['but', 'O\\n']\n", + "['not', 'O\\n']\n", + "['RR', 'O\\n']\n", + "['MS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['differed', 'O\\n']\n", + "['from', 'O\\n']\n", + "['control', 'O\\n']\n", + "['frequencies', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['because', 'O\\n']\n", + "['of', 'O\\n']\n", + "['an', 'O\\n']\n", + "['increase', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['2', 'O\\n']\n", + "['-', 'O\\n']\n", + "['1', 'O\\n']\n", + "['subhaplotype', 'O\\n']\n", + "['(', 'O\\n']\n", + "['P=.02', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Vbeta8', 'O\\n']\n", + "['-', 'O\\n']\n", + "['BamHI', 'O\\n']\n", + "['and', 'O\\n']\n", + "['Vbeta11', 'O\\n']\n", + "['-', 'O\\n']\n", + "['BamHI', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['frequencies', 'O\\n']\n", + "['(', 'O\\n']\n", + "['P=.05', 'O\\n']\n", + "['and', 'O\\n']\n", + "['.009', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['respectively', 'O\\n']\n", + "[')', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['DRw15', 'O\\n']\n", + "['+', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['(', 'O\\n']\n", + "['but', 'O\\n']\n", + "['not', 'O\\n']\n", + "['RR', 'O\\n']\n", + "['MS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['differed', 'O\\n']\n", + "['from', 'O\\n']\n", + "['control', 'O\\n']\n", + "['frequencies', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['Vbeta1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Vbeta8', 'O\\n']\n", + "['subhaplotype', 'O\\n']\n", + "['frequencies', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['DRw15-', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['(', 'O\\n']\n", + "['but', 'O\\n']\n", + "['not', 'O\\n']\n", + "['RR', 'O\\n']\n", + "['MS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['differed', 'O\\n']\n", + "['from', 'O\\n']\n", + "['control', 'O\\n']\n", + "['frequencies', 'O\\n']\n", + "['(', 'O\\n']\n", + "['P=.03', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['significantly', 'O\\n']\n", + "['increased', 'O\\n']\n", + "['frequency', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['1', 'O\\n']\n", + "['subhaplotype', 'O\\n']\n", + "['(', 'O\\n']\n", + "['P=.01', 'O\\n']\n", + "[';', 'O\\n']\n", + "['RR=7.1', 'O\\n']\n", + "[')', 'O\\n']\n", + "['in', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['versus', 'O\\n']\n", + "['RR', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Susceptibility', 'O\\n']\n", + "['to', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['MS', 'O\\n']\n", + "['is', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['both', 'O\\n']\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['inheritance', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['3', 'O\\n']\n", + "[\"'\", 'O\\n']\n", + "['(', 'O\\n']\n", + "['Vbeta11', 'O\\n']\n", + "[')', 'O\\n']\n", + "['end', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['2', 'O\\n']\n", + "['-', 'O\\n']\n", + "['1', 'O\\n']\n", + "['subhaplotype', 'O\\n']\n", + "['defined', 'O\\n']\n", + "['by', 'O\\n']\n", + "['the', 'O\\n']\n", + "['Vbeta8', 'O\\n']\n", + "['-', 'O\\n']\n", + "['BamHI', 'O\\n']\n", + "['and', 'O\\n']\n", + "['Vbeta11', 'O\\n']\n", + "['-', 'O\\n']\n", + "['BamHI', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['in', 'O\\n']\n", + "['DRw15', 'O\\n']\n", + "['+', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['and', 'O\\n']\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['gene', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['located', 'O\\n']\n", + "['on', 'O\\n']\n", + "['the', 'O\\n']\n", + "['1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['1', 'O\\n']\n", + "['subhaplotype', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['defined', 'O\\n']\n", + "['by', 'O\\n']\n", + "['the', 'O\\n']\n", + "['Vbeta1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['TaqI', 'O\\n']\n", + "['and', 'O\\n']\n", + "['Vbeta8', 'O\\n']\n", + "['-', 'O\\n']\n", + "['MspI', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['TcR', 'O\\n']\n", + "['beta', 'O\\n']\n", + "['-', 'O\\n']\n", + "['chain', 'O\\n']\n", + "['complex', 'O\\n']\n", + "['in', 'O\\n']\n", + "['DRw15-', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#7509237\n", + "\n", + "['Complex', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['4114', 'B-SNP\\n']\n", + "[' ', ' \\n']\n", + "['ATA-->TT', 'B-SNP\\n']\n", + "['in', 'O\\n']\n", + "['exon', 'O\\n']\n", + "['22', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cystic', 'O\\n']\n", + "['fibrosis', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['CFTR', 'B-Gene\\n']\n", + "['.', 'I-Gene\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#9792408\n", + "\n", + "['A', 'O\\n']\n", + "['frequent', 'O\\n']\n", + "['TG', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['near', 'O\\n']\n", + "['the', 'O\\n']\n", + "['polyadenylation', 'O\\n']\n", + "['signal', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['human', 'O\\n']\n", + "['HEXB', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "[':', 'O\\n']\n", + "['occurrence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['an', 'O\\n']\n", + 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\\n']\n", + "['We', 'O\\n']\n", + "['hypothesized', 'O\\n']\n", + "['that', 'O\\n']\n", + "['additional', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['loci', 'O\\n']\n", + "['may', 'O\\n']\n", + "['be', 'O\\n']\n", + "['involved', 'O\\n']\n", + "['in', 'O\\n']\n", + "['conferring', 'O\\n']\n", + "['risk', 'O\\n']\n", + "['of', 'O\\n']\n", + "['PSP', 'O\\n']\n", + "['that', 'O\\n']\n", + "['could', 'O\\n']\n", + "['be', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['through', 'O\\n']\n", + "['a', 'O\\n']\n", + "['pooling', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['genomewide', 'O\\n']\n", + "['association', 'O\\n']\n", + "['study', 'O\\n']\n", + "['of', 'O\\n']\n", + "['>', 'O\\n']\n", + "Komma Detected\n", + "500,000,O\n", + "\n", + "['SNPs', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Candidate', 'O\\n']\n", + "['SNPs', 'O\\n']\n", + "['with', 'O\\n']\n", + "['large', 'O\\n']\n", + "['differences', 'O\\n']\n", + "['in', 'O\\n']\n", + "['allelic', 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"['the', 'O\\n']\n", + "['quantitative', 'O\\n']\n", + "['nature', 'O\\n']\n", + "['of', 'O\\n']\n", + "['our', 'O\\n']\n", + "['method', 'O\\n']\n", + "['allows', 'O\\n']\n", + "['typing', 'O\\n']\n", + "['of', 'O\\n']\n", + "['mixed', 'O\\n']\n", + "['samples', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#7762555\n", + "\n", + "['The', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['basis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['homocystinuria', 'O\\n']\n", + "['due', 'O\\n']\n", + "['to', 'O\\n']\n", + "['cystathionine', 'B-Gene\\n']\n", + "['beta', 'I-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['synthase', 'I-Gene\\n']\n", + "['deficiency', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Italian', 'O\\n']\n", + "['families', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['report', 'O\\n']\n", + "['of', 'O\\n']\n", + "['four', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Four', 'O\\n']\n", + "['new', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cystathionine', 'B-Gene\\n']\n", + "['beta', 'I-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['synthase', 'I-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['CBS', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Italian', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['homocystinuria', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['first', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['G', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['to', 'I-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "['transition', 'I-SNP\\n']\n", + "['at', 'I-SNP\\n']\n", + "['base', 'I-SNP\\n']\n", + "['374', 'I-SNP\\n']\n", + "['in', 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'O\\n']\n", + "['treatment', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['second', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['C', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['to', 'I-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "['transition', 'I-SNP\\n']\n", + "['at', 'I-SNP\\n']\n", + "['base', 'I-SNP\\n']\n", + "['770', 'I-SNP\\n']\n", + "['in', 'I-SNP\\n']\n", + "['exon', 'I-SNP\\n']\n", + "['7', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['causing', 'O\\n']\n", + "['a', 'O\\n']\n", + "['threonine', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['to', 'I-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['methionine', 'I-SNP\\n']\n", + "['substitution', 'I-SNP\\n']\n", + "['at', 'I-SNP\\n']\n", + "['amino', 'I-SNP\\n']\n", + "['acid', 'I-SNP\\n']\n", + "['257', 'I-SNP\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['(', 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'O\\n']\n", + "['an', 'O\\n']\n", + "['insertion', 'O\\n']\n", + "['of', 'O\\n']\n", + "['68', 'O\\n']\n", + "['bp', 'O\\n']\n", + "['in', 'O\\n']\n", + "['exon', 'O\\n']\n", + "['8', 'O\\n']\n", + "['at', 'O\\n']\n", + "['base', 'O\\n']\n", + "['844', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['introduces', 'O\\n']\n", + "['a', 'O\\n']\n", + "['premature', 'O\\n']\n", + "['termination', 'O\\n']\n", + "['codon', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['fourth', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['is', 'O\\n']\n", + "['C', 'O\\n']\n", + "['-', 'O\\n']\n", + "['to', 'O\\n']\n", + "['-', 'O\\n']\n", + "['T', 'O\\n']\n", + "['transition', 'O\\n']\n", + "['in', 'O\\n']\n", + "['exon', 'O\\n']\n", + "['2', 'O\\n']\n", + "['at', 'O\\n']\n", + "['base', 'O\\n']\n", + "['262', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['causing', 'O\\n']\n", + "['a', 'O\\n']\n", + "['proline', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['to', 'I-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['serine', 'I-SNP\\n']\n", + "['substitution', 'I-SNP\\n']\n", + "['at', 'I-SNP\\n']\n", + "['position', 'I-SNP\\n']\n", + "['88', 'I-SNP\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['P88S', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['This', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['is', 'O\\n']\n", + "['carried', 'O\\n']\n", + "['on', 'O\\n']\n", + "['a', 'O\\n']\n", + "['single', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['in', 'O\\n']\n", + "['three', 'O\\n']\n", + "['affected', 'O\\n']\n", + "['sisters', 'O\\n']\n", + "['responsive', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cofactor', 'O\\n']\n", + "['treatment', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['addition', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['six', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['reported', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['A114V', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['E131D', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['P145L', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['I278', 'B-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['G307S', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['and', 'O\\n']\n", + "['A1224', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['2C', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['tested', 'O\\n']\n", + "['in', 'O\\n']\n", + "['14', 'O\\n']\n", + "['independent', 'O\\n']\n", + "['Italian', 'O\\n']\n", + "['families', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Mutations', 'O\\n']\n", + "['A114V', 'B-SNP\\n']\n", + "['and', 'O\\n']\n", + "['I278', 'B-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "['are', 'O\\n']\n", + "['carried', 'O\\n']\n", + "['by', 'O\\n']\n", + "['three', 'O\\n']\n", + "['and', 'O\\n']\n", + "['by', 'O\\n']\n", + "['seven', 'O\\n']\n", + "['independent', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['respectively', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['other', 'O\\n']\n", + "['four', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['--', 'O\\n']\n", + "['including', 'O\\n']\n", + "['G307S', 'B-SNP\\n']\n", + "['and', 'O\\n']\n", + "['A1224', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['2C', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['common', 'O\\n']\n", + "['among', 'O\\n']\n", + "['northern', 'O\\n']\n", + "['European', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['--', 'O\\n']\n", + "['have', 'O\\n']\n", + "['not', 'O\\n']\n", + "['been', 'O\\n']\n", + "['detected', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#16329098\n", + "\n", + "['HEY2', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['malformed', 'O\\n']\n", + "['hearts', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['basic', 'O\\n']\n", + "['helix', 'O\\n']\n", + "['-', 'O\\n']\n", + "['loop', 'O\\n']\n", + "['-', 'O\\n']\n", + "['helix', 'O\\n']\n", + "['(', 'O\\n']\n", + "['bHLH', 'O\\n']\n", + "[')', 'O\\n']\n", + "['transcription', 'O\\n']\n", + "['factor', 'O\\n']\n", + "['Hey2', 'B-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['gridlock', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['is', 'O\\n']\n", + "['an', 'O\\n']\n", + "['important', 'O\\n']\n", + "['determinant', 'O\\n']\n", + "['of', 'O\\n']\n", + "['mammalian', 'O\\n']\n", + "['heart', 'O\\n']\n", + "['development', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['but', 'O\\n']\n", + "['its', 'O\\n']\n", + "['role', 'O\\n']\n", + "['in', 'O\\n']\n", + "['human', 'O\\n']\n", + "['ventricular', 'O\\n']\n", + "['septal', 'O\\n']\n", + "['defects', 'O\\n']\n", + "['is', 'O\\n']\n", + "['unknown', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Hey2', 'B-Gene\\n']\n", + "['functions', 'O\\n']\n", + "['as', 'O\\n']\n", + "['a', 'O\\n']\n", + "['repressor', 'O\\n']\n", + "['through', 'O\\n']\n", + "['the', 'O\\n']\n", + "['bHLH', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['By', 'O\\n']\n", + "['direct', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['analyzed', 'O\\n']\n", + "['the', 'O\\n']\n", + "['sequences', 'O\\n']\n", + "['encoding', 'O\\n']\n", + "['the', 'O\\n']\n", + "['bHLH', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['human', 'O\\n']\n", + "['HEY2', 'B-Gene\\n']\n", + "['in', 'O\\n']\n", + "['52', 'O\\n']\n", + "['explanted', 'O\\n']\n", + "['hearts', 'O\\n']\n", + "['of', 'O\\n']\n", + 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"['been', 'O\\n']\n", + "['determined', 'O\\n']\n", + "['in', 'O\\n']\n", + "['more', 'O\\n']\n", + "['than', 'O\\n']\n", + "['50', 'O\\n']\n", + "['untreated', 'O\\n']\n", + "['adults', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Segregation', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['was', 'O\\n']\n", + "['performed', 'O\\n']\n", + "['to', 'O\\n']\n", + "['confirm', 'O\\n']\n", + "['nonpathogenicity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Forty', 'O\\n']\n", + "['-', 'O\\n']\n", + "['six', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['had', 'O\\n']\n", + "['been', 'O\\n']\n", + "['tested', 'O\\n']\n", + "['in', 'O\\n']\n", + "['more', 'O\\n']\n", + "['than', 'O\\n']\n", + "['50', 'O\\n']\n", + "['untreated', 'O\\n']\n", + "['subjects', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['three', 'O\\n']\n", + "['were', 'O\\n']\n", + "['nonpathogenic', 'O\\n']\n", + "['according', 'O\\n']\n", + "['to', 'O\\n']\n", + 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'O\\n']\n", + "['criteria', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['three', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['were', 'O\\n']\n", + "['nonpathogenic', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['criteria', 'O\\n']\n", + "['may', 'O\\n']\n", + "['help', 'O\\n']\n", + "['to', 'O\\n']\n", + "['identify', 'O\\n']\n", + "['nonpathogenic', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['changes', 'O\\n']\n", + "['in', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['cascade', 'O\\n']\n", + "['screening', 'O\\n']\n", + "['programs', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#16252239\n", + "\n", + "['Severely', 'O\\n']\n", + "['incapacitating', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['extreme', 'O\\n']\n", + "['short', 'O\\n']\n", + "['stature', 'O\\n']\n", + "['identify', 'O\\n']\n", + 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'O\\n']\n", + "['of', 'O\\n']\n", + "['pathological', 'O\\n']\n", + "['conditions', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['including', 'O\\n']\n", + "['cancer', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['diabetes', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['inflammation', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['To', 'O\\n']\n", + "['identify', 'O\\n']\n", + "['a', 'O\\n']\n", + "['major', 'O\\n']\n", + "['regulator', 'O\\n']\n", + "['of', 'O\\n']\n", + "['human', 'O\\n']\n", + "['growth', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['performed', 'O\\n']\n", + "['positional', 'O\\n']\n", + "['cloning', 'O\\n']\n", + "['in', 'O\\n']\n", + "['an', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['type', 'O\\n']\n", + "['of', 'O\\n']\n", + "['profound', 'O\\n']\n", + "['short', 'O\\n']\n", + "['stature', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['anauxetic', 'O\\n']\n", + "['dysplasia', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Homozygosity', 'O\\n']\n", + "['mapping', 'O\\n']\n", + "['led', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['RMRP', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['was', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['known', 'O\\n']\n", + "['to', 'O\\n']\n", + "['cause', 'O\\n']\n", + "['two', 'O\\n']\n", + "['milder', 'O\\n']\n", + "['types', 'O\\n']\n", + "['of', 'O\\n']\n", + "['short', 'O\\n']\n", + "['stature', 'O\\n']\n", + "['with', 'O\\n']\n", + "['susceptibility', 'O\\n']\n", + "['to', 'O\\n']\n", + "['cancer', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['cartilage', 'O\\n']\n", + "['hair', 'O\\n']\n", + "['hypoplasia', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['metaphyseal', 'O\\n']\n", + "['dysplasia', 'O\\n']\n", + "['without', 'O\\n']\n", + "['hypotrichosis', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['show', 'O\\n']\n", + "['that', 'O\\n']\n", + "['different', 'O\\n']\n", + "['RMRP', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['lead', 'O\\n']\n", + "['to', 'O\\n']\n", + "['decreased', 'O\\n']\n", + "['cell', 'O\\n']\n", + "['growth', 'O\\n']\n", + "['by', 'O\\n']\n", + "['impairing', 'O\\n']\n", + "['ribosomal', 'O\\n']\n", + "['assembly', 'O\\n']\n", + "['and', 'O\\n']\n", + "['by', 'O\\n']\n", + "['altering', 'O\\n']\n", + "['cyclin', 'O\\n']\n", + "['-', 'O\\n']\n", + "['dependent', 'O\\n']\n", + "['cell', 'O\\n']\n", + "['cycle', 'O\\n']\n", + "['regulation', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Clinical', 'O\\n']\n", + "['heterogeneity', 'O\\n']\n", + "['is', 'O\\n']\n", + "['explained', 'O\\n']\n", + "['by', 'O\\n']\n", + "['a', 'O\\n']\n", + "['correlation', 'O\\n']\n", + "['between', 'O\\n']\n", + "['the', 'O\\n']\n", + "['level', 'O\\n']\n", + "['and', 'O\\n']\n", + "['type', 'O\\n']\n", + "['of', 'O\\n']\n", + "['functional', 'O\\n']\n", + "['impairment', 'O\\n']\n", + "['in', 'O\\n']\n", + "['vitro', 'O\\n']\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['severity', 'O\\n']\n", + "['of', 'O\\n']\n", + "['short', 'O\\n']\n", + "['stature', 'O\\n']\n", + "['or', 'O\\n']\n", + "['predisposition', 'O\\n']\n", + "['to', 'O\\n']\n", + "['cancer', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Whereas', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cartilage', 'O\\n']\n", + "['hair', 'O\\n']\n", + "['hypoplasia', 'O\\n']\n", + "['founder', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['affects', 'O\\n']\n", + "['both', 'O\\n']\n", + "['pathways', 'O\\n']\n", + "['intermediately', 'O\\n']\n", + "Komma Detected\n", + 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\\n']\n", + "['Surprisingly', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['when', 'O\\n']\n", + "['not', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['known', 'O\\n']\n", + "['CFTR', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['5', 'O\\n']\n", + "['T', 'O\\n']\n", + "['was', 'O\\n']\n", + "['detected', 'O\\n']\n", + "['with', 'O\\n']\n", + "['elevated', 'O\\n']\n", + "['frequency', 'O\\n']\n", + "['among', 'O\\n']\n", + "['individuals', 'O\\n']\n", + "['with', 'O\\n']\n", + "['sinopulmonary', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['of', 'O\\n']\n", + "['ill', 'O\\n']\n", + "['-', 'O\\n']\n", + "['defined', 'O\\n']\n", + "['etiology', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['but', 'O\\n']\n", + "['with', 'O\\n']\n", + "['some', 'O\\n']\n", + "['characteristics', 'O\\n']\n", + "['of', 'O\\n']\n", + "['variant', 'O\\n']\n", + "['CF', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['summary', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['5', 'O\\n']\n", + "['T', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['was', 'O\\n']\n", + "['not', 'O\\n']\n", + "['found', 'O\\n']\n", + "['in', 'O\\n']\n", + "['cis', 'O\\n']\n", + "['with', 'O\\n']\n", + "['CF', 'O\\n']\n", + "['-', 'O\\n']\n", + "['causing', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['besides', 'O\\n']\n", + "['R117H', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['but', 'O\\n']\n", + "['an', 'O\\n']\n", + "['elevated', 'O\\n']\n", + "['5', 'O\\n']\n", + "['T', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['frequency', 'O\\n']\n", + "['in', 'O\\n']\n", + "['variant', 'O\\n']\n", + "['CF', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['suggests', 'O\\n']\n", + "['5', 'O\\n']\n", + "['T', 'O\\n']\n", + "['may', 'O\\n']\n", + "['be', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['disease', 'O\\n']\n", + 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"['epsilon', 'O\\n']\n", + "['2', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['predisposes', 'O\\n']\n", + "['to', 'O\\n']\n", + "['coronary', 'O\\n']\n", + "['artery', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['(', 'O\\n']\n", + "['CAD', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['results', 'O\\n']\n", + "['of', 'O\\n']\n", + "['this', 'O\\n']\n", + "['study', 'O\\n']\n", + "['provide', 'O\\n']\n", + "['not', 'O\\n']\n", + "['only', 'O\\n']\n", + "['a', 'O\\n']\n", + "['reliable', 'O\\n']\n", + "['estimate', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['magnitude', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['effect', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['apo', 'B-Gene\\n']\n", + "['E', 'I-Gene\\n']\n", + "['polymorphism', 'O\\n']\n", + "['on', 'O\\n']\n", + "['various', 'O\\n']\n", + "['measurements', 'O\\n']\n", + "['commonly', 'O\\n']\n", + "['used', 'O\\n']\n", + 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"[']', 'O\\n']\n", + "[')', 'O\\n']\n", + "['was', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['shown', 'O\\n']\n", + "['to', 'O\\n']\n", + "['carry', 'O\\n']\n", + "['a', 'O\\n']\n", + "['pericentric', 'O\\n']\n", + "['inversion', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['X', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "Komma Detected\n", + "46,Y,O\n", + "\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['inv(X)(p21.2q22.2', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['His', 'O\\n']\n", + "['mother', 'O\\n']\n", + "['carried', 'O\\n']\n", + "['this', 'O\\n']\n", + "['inversion', 'O\\n']\n", + "['on', 'O\\n']\n", + "['one', 'O\\n']\n", + "['X', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['patient', 'O\\n']\n", + "[\"'s\", 'O\\n']\n", + "['condition', 'O\\n']\n", + "['was', 'O\\n']\n", + "['originally', 'O\\n']\n", + 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+ "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['severe', 'O\\n']\n", + "['mental', 'O\\n']\n", + "['retardation', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['other', 'O\\n']\n", + "['clinical', 'O\\n']\n", + "['features', 'O\\n']\n", + "['of', 'O\\n']\n", + "['this', 'O\\n']\n", + "['patient', 'O\\n']\n", + "['were', 'O\\n']\n", + "['deemed', 'O\\n']\n", + "['likely', 'O\\n']\n", + "['to', 'O\\n']\n", + "['be', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['opposite', 'O\\n']\n", + "['breakpoint', 'O\\n']\n", + "['at', 'O\\n']\n", + "['Xq22', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Our', 'O\\n']\n", + "['precise', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cytogenetic', 'O\\n']\n", + "['characterization', 'O\\n']\n", + "['of', 'O\\n']\n", + "['both', 'O\\n']\n", + "['breakpoints', 'O\\n']\n", + "['revealed', 'O\\n']\n", + "['three', 'O\\n']\n", + "['catastrophic', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['events', 'O\\n']\n", + "['that', 'O\\n']\n", + "['had', 'O\\n']\n", + "['probably', 'O\\n']\n", + "['influenced', 'O\\n']\n", + "['neuromuscular', 'O\\n']\n", + "['and', 'O\\n']\n", + "['cognitive', 'O\\n']\n", + "['development', 'O\\n']\n", + "[':', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['of', 'O\\n']\n", + "['part', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['DMD', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['at', 'O\\n']\n", + "['Xp21.2', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['duplication', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['human', 'B-Gene\\n']\n", + "['proteolipid', 'I-Gene\\n']\n", + "['protein', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['(', 'B-Gene\\n']\n", + "['PLP', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['at', 'O\\n']\n", + "['Xq22.2', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['disruption', 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', ' \\n']\n", + "['To', 'O\\n']\n", + "['educate', 'O\\n']\n", + "['a', 'O\\n']\n", + "['geographically', 'O\\n']\n", + "['and', 'O\\n']\n", + "['professionally', 'O\\n']\n", + "['diverse', 'O\\n']\n", + "['group', 'O\\n']\n", + "['of', 'O\\n']\n", + "['health', 'O\\n']\n", + "['care', 'O\\n']\n", + "['providers', 'O\\n']\n", + "['about', 'O\\n']\n", + "['teratology', 'O\\n']\n", + "['in', 'O\\n']\n", + "['an', 'O\\n']\n", + "['economic', 'O\\n']\n", + "['and', 'O\\n']\n", + "['efficient', 'O\\n']\n", + "['manner', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['developed', 'O\\n']\n", + "['a', 'O\\n']\n", + "['locally', 'O\\n']\n", + "['written', 'O\\n']\n", + "['and', 'O\\n']\n", + "['distributed', 'O\\n']\n", + "['teratology', 'O\\n']\n", + "['newsletter', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Response', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['newsletter', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", 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', ' \\n']\n", + "['Protein', 'O\\n']\n", + "['residues', 'O\\n']\n", + "['G801', 'O\\n']\n", + "['and', 'O\\n']\n", + "['H200', 'O\\n']\n", + "['are', 'O\\n']\n", + "['conserved', 'O\\n']\n", + "['among', 'O\\n']\n", + "['the', 'O\\n']\n", + "['four', 'O\\n']\n", + "['mammalian', 'O\\n']\n", + "['alpha', 'O\\n']\n", + "['-', 'O\\n']\n", + "['mannosidases', 'O\\n']\n", + "['cloned', 'O\\n']\n", + "['to', 'O\\n']\n", + "['date', 'O\\n']\n", + "[':', 'O\\n']\n", + "['human', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['cattle', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['cat', 'O\\n']\n", + "['and', 'O\\n']\n", + "['mouse', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['vitro', 'O\\n']\n", + "['expression', 'O\\n']\n", + "['studies', 'O\\n']\n", + "['demonstrated', 'O\\n']\n", + "['that', 'O\\n']\n", + "['both', 'O\\n']\n", + "['missense', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['expressed', 'O\\n']\n", + "['no', 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"\n", + "['3', 'O\\n']\n", + "['of', 'O\\n']\n", + "['which', 'O\\n']\n", + "['are', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['addition', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['3', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['carried', 'O\\n']\n", + "['a', 'O\\n']\n", + "['single', 'O\\n']\n", + "['variant', 'O\\n']\n", + "['of', 'O\\n']\n", + "['likely', 'O\\n']\n", + "['pathogenicity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Furthermore', 'O\\n']\n", + "['a', 'O\\n']\n", + "['large', 'O\\n']\n", + "['number', 'O\\n']\n", + "['of', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['putative', 'O\\n']\n", + "['non', 'O\\n']\n", + "['-', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['causing', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['were', 'O\\n']\n", + "['identified', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['highlighting', 'O\\n']\n", + "['the', 'O\\n']\n", + "['extremely', 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+ "[')', 'O\\n']\n", + "['and', 'O\\n']\n", + "['to', 'O\\n']\n", + "['accurately', 'O\\n']\n", + "['determine', 'O\\n']\n", + "['carrier', 'O\\n']\n", + "['status', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['have', 'O\\n']\n", + "['developed', 'O\\n']\n", + "['a', 'O\\n']\n", + "['quantitative', 'O\\n']\n", + "['PCR', 'O\\n']\n", + "['assay', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['determination', 'O\\n']\n", + "['of', 'O\\n']\n", + "['SMNT', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + "['SMNC', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['-', 'O\\n']\n", + "['copy', 'O\\n']\n", + "['number', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['This', 'O\\n']\n", + "['report', 'O\\n']\n", + "['demonstrates', 'O\\n']\n", + "['how', 'O\\n']\n", + "['risk', 'O\\n']\n", + "['estimates', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['diagnosis', 'O\\n']\n", + "['and', 'O\\n']\n", + "['detection', 'O\\n']\n", 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"['north', 'O\\n']\n", + "['Africa', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Seventeen', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['have', 'O\\n']\n", + "['frequencies', 'O\\n']\n", + "['between', 'O\\n']\n", + "['0.1', 'O\\n']\n", + "['and', 'O\\n']\n", + "['0.9', 'O\\n']\n", + "['%', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['1717', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['1G-->A', 'I-SNP\\n']\n", + "['(', 'O\\n']\n", + "['0.83', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['R553X', 'B-SNP\\n']\n", + "['(', 'O\\n']\n", + "['0.75', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['R1162X', 'B-SNP\\n']\n", + "['(', 'O\\n']\n", + "['0.51', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['621', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['1G-->T', 'I-SNP\\n']\n", + "['(', 'O\\n']\n", + 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"['28.8', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['R117H', 'B-SNP\\n']\n", + "['in', 'O\\n']\n", + "['northwestern', 'O\\n']\n", + "['Europe', 'O\\n']\n", + "['(', 'O\\n']\n", + "['1.3', 'O\\n']\n", + "['-', 'O\\n']\n", + "['3.0', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['R553X', 'B-SNP\\n']\n", + "['in', 'O\\n']\n", + "['central', 'O\\n']\n", + "['Europe', 'O\\n']\n", + "['(', 'O\\n']\n", + "['1.1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['24.4', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['1717', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['1G-->A', 'I-SNP\\n']\n", + "['in', 'O\\n']\n", + "['Belgium', 'O\\n']\n", + "['and', 'O\\n']\n", + "['France', 'O\\n']\n", + "['(', 'O\\n']\n", + "['1.1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['5.3', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + 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"[' ', ' \\n']\n", + "['This', 'O\\n']\n", + "['information', 'O\\n']\n", + "['might', 'O\\n']\n", + "['facilitate', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['CF', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['different', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['of', 'O\\n']\n", + "['Europe', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#14681830\n", + "\n", + "['Maternally', 'O\\n']\n", + "['inherited', 'O\\n']\n", + "['aminoglycoside', 'O\\n']\n", + "['-', 'O\\n']\n", + "['induced', 'O\\n']\n", + "['and', 'O\\n']\n", + "['nonsyndromic', 'O\\n']\n", + "['deafness', 'O\\n']\n", + "['is', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['C1494', 'B-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mitochondrial', 'B-Gene\\n']\n", + "['12S', 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"['all', 'O\\n']\n", + "['five', 'O\\n']\n", + "['of', 'O\\n']\n", + "['these', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['given', 'O\\n']\n", + "['diagnoses', 'O\\n']\n", + "['of', 'O\\n']\n", + "['breast', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['thyroid', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and/or', 'O\\n']\n", + "['endometrial', 'O\\n']\n", + "['cancer', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['demonstrated', 'O\\n']\n", + "['that', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['binding', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['PTEN', 'B-Gene\\n']\n", + "['promoter', 'O\\n']\n", + "['(', 'O\\n']\n", + "['-893', 'O\\n']\n", + "['to', 'O\\n']\n", + "['-755', 'O\\n']\n", + "[')', 'O\\n']\n", + "['was', 'O\\n']\n", + "['not', 'O\\n']\n", + "['altered', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['five', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['when', 'O\\n']\n", + "['compared', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['wild', 'O\\n']\n", + "['-', 'O\\n']\n", + "['type', 'O\\n']\n", + "['(', 'O\\n']\n", + "['WT', 'O\\n']\n", + "[')', 'O\\n']\n", + "['promoter', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['However', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['reporter', 'O\\n']\n", + "['assays', 'O\\n']\n", + "['indicated', 'O\\n']\n", + "['that', 'O\\n']\n", + "['three', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['-861G', 'I-SNP\\n']\n", + "['/', 'I-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['-853C', 'B-SNP\\n']\n", + "['/', 'I-SNP\\n']\n", + "['G', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['and', 'O\\n']\n", + "['-764G', 'B-SNP\\n']\n", + "['/', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['demonstrated', 'O\\n']\n", + "['an', 'O\\n']\n", + "['~50', 'O\\n']\n", + "['%', 'O\\n']\n", + "['decrease', 'O\\n']\n", + "['in', 'O\\n']\n", + "['luciferase', 'O\\n']\n", + "['activity', 'O\\n']\n", + "['compared', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['WT', 'O\\n']\n", + "['construct', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['PTEN', 'B-Gene\\n']\n", + "['messenger', 'O\\n']\n", + "['RNA', 'O\\n']\n", + "['(', 'O\\n']\n", + "['mRNA', 'O\\n']\n", + "[')', 'O\\n']\n", + "['levels', 'O\\n']\n", + "['were', 'O\\n']\n", + "['not', 'O\\n']\n", + "['altered', 'O\\n']\n", + "['in', 'O\\n']\n", + "['these', 'O\\n']\n", + "['variants', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['whereas', 'O\\n']\n", + "['secondary', 'O\\n']\n", + "['structure', 'O\\n']\n", + "['predictions', 'O\\n']\n", + "['indicated', 'O\\n']\n", + "['that', 'O\\n']\n", + "['different', 'O\\n']\n", + "['PTEN', 'B-Gene\\n']\n", + "['5', 'O\\n']\n", + "[\"'\", 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"['-', 'O\\n']\n", + "['sensitive', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['diagnostic', 'O\\n']\n", + "['and', 'O\\n']\n", + "['predictive', 'O\\n']\n", + "['testing', 'O\\n']\n", + "['and', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['ultimately', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['to', 'O\\n']\n", + "['rational', 'O\\n']\n", + "['targeted', 'O\\n']\n", + "['therapies', 'O\\n']\n", + "['to', 'O\\n']\n", + "['treat', 'O\\n']\n", + "['or', 'O\\n']\n", + "['prevent', 'O\\n']\n", + "['malignancy', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#1598916\n", + "\n", + "['Uniparental', 'O\\n']\n", + "['disomy', 'O\\n']\n", + "['15', 'O\\n']\n", + "['resulting', 'O\\n']\n", + "['from', 'O\\n']\n", + "['\"', 'O\\n']\n", + "['correction', 'O\\n']\n", + "['\"', 'O\\n']\n", + "['of', 'O\\n']\n", + "['an', 'O\\n']\n", + "['initial', 'O\\n']\n", + "['trisomy', 'O\\n']\n", + "['15', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#17285591\n", + "\n", + "['Partial', 'O\\n']\n", + "['duplication', 'O\\n']\n", + "['at', 'O\\n']\n", + "['AZFc', 'B-Gene\\n']\n", + "['on', 'O\\n']\n", + "['the', 'O\\n']\n", + "['Y', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['risk', 'O\\n']\n", + "['factor', 'O\\n']\n", + "['for', 'O\\n']\n", + "['impaired', 'O\\n']\n", + "['spermatogenesis', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Han', 'O\\n']\n", + "['Chinese', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Taiwan', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['Azoospermia', 'O\\n']\n", + "['Factor', 'O\\n']\n", + "['c', 'O\\n']\n", + "['(', 'O\\n']\n", + "['AZFc', 'O\\n']\n", + "[')', 'O\\n']\n", + "['region', 'O\\n']\n", + "['on', 'O\\n']\n", + "['the', 'O\\n']\n", + "['Y', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['long', 'O\\n']\n", + "['arm', 'O\\n']\n", + "['is', 'O\\n']\n", + "['one', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['least', 'O\\n']\n", + "['stable', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['human', 'O\\n']\n", + "['genome', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['It', 'O\\n']\n", + "['consists', 'O\\n']\n", + "['almost', 'O\\n']\n", + "['entirely', 'O\\n']\n", + "['of', 'O\\n']\n", + "['very', 'O\\n']\n", + "['long', 'O\\n']\n", + "['repeats', 'O\\n']\n", + "['and', 'O\\n']\n", + "['is', 'O\\n']\n", + "['prone', 'O\\n']\n", + "['to', 'O\\n']\n", + "['rearrangement', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Numerous', 'O\\n']\n", + "['structures', 'O\\n']\n", + "['at', 'O\\n']\n", + "['AZFc', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['identified', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['some', 'O\\n']\n", + "['of', 'O\\n']\n", + "['them', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['reported', 'O\\n']\n", + "['to', 'O\\n']\n", + "['be', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['male', 'O\\n']\n", + "['infertility', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['screened', 'O\\n']\n", + "['580', 'O\\n']\n", + "['Han', 'O\\n']\n", + "['Chinese', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Taiwan', 'O\\n']\n", + "['for', 'O\\n']\n", + "['AZFc', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['and', 'O\\n']\n", + "['duplication', 'O\\n']\n", + "['using', 'O\\n']\n", + "['three', 'O\\n']\n", + "['PCR', 'O\\n']\n", + "['assays', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['characterized', 'O\\n']\n", + "['the', 'O\\n']\n", + "['DAZ', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['in', 'O\\n']\n", + "['selected', 'O\\n']\n", + "['subjects', 'O\\n']\n", + "['with', 'O\\n']\n", + "['additional', 'O\\n']\n", + "['Southern', 'O\\n']\n", + "['analyses', 'O\\n']\n", + "['.', 'O\\n']\n", + 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"['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Fourteen', 'O\\n']\n", + "['different', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['were', 'O\\n']\n", + "['found', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['of', 'O\\n']\n", + "['which', 'O\\n']\n", + "['seven', 'O\\n']\n", + "['were', 'O\\n']\n", + "['novel', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['viz', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['three', 'O\\n']\n", + "['missense', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['G158D', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['P261L', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['F405H', 'B-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['a', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['of', 'O\\n']\n", + "['three', 'O\\n']\n", + "['nucleotides', 'O\\n']\n", + "['causing', 'O\\n']\n", + "['a', 'O\\n']\n", + "['deletion', 'O\\n']\n", + 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'O\\n']\n", + "['subtypes', 'O\\n']\n", + "['could', 'O\\n']\n", + "['be', 'O\\n']\n", + "['established', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#17503333\n", + "\n", + "['RAB23', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Carpenter', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['imply', 'O\\n']\n", + "['an', 'O\\n']\n", + "['unexpected', 'O\\n']\n", + "['role', 'O\\n']\n", + "['for', 'O\\n']\n", + "['hedgehog', 'O\\n']\n", + "['signaling', 'O\\n']\n", + "['in', 'O\\n']\n", + "['cranial', 'O\\n']\n", + "['-', 'O\\n']\n", + "['suture', 'O\\n']\n", + "['development', 'O\\n']\n", + "['and', 'O\\n']\n", + "['obesity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Carpenter', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['pleiotropic', 'O\\n']\n", + "['disorder', 'O\\n']\n", + "['with', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['inheritance', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['cardinal', 'O\\n']\n", + "['features', 'O\\n']\n", + "['of', 'O\\n']\n", + "['which', 'O\\n']\n", + "['include', 'O\\n']\n", + "['craniosynostosis', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['polysyndactyly', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['obesity', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['cardiac', 'O\\n']\n", + "['defects', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Using', 'O\\n']\n", + "['homozygosity', 'O\\n']\n", + "['mapping', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['found', 'O\\n']\n", + "['linkage', 'O\\n']\n", + "['to', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['6p12.1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['q12', 'O\\n']\n", + "['and', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['in', 'O\\n']\n", + "['15', 'O\\n']\n", + "['independent', 'O\\n']\n", + "['families', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['identified', 'O\\n']\n", + "['five', 'O\\n']\n", + "['different', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['(', 'O\\n']\n", + "['four', 'O\\n']\n", + "['truncating', 'O\\n']\n", + "['and', 'O\\n']\n", + "['one', 'O\\n']\n", + "['missense', 'O\\n']\n", + "[')', 'O\\n']\n", + "['in', 'O\\n']\n", + "['RAB23', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['which', 'O\\n']\n", + "['encodes', 'O\\n']\n", + "['a', 'O\\n']\n", + "['member', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['RAB', 'O\\n']\n", + "['guanosine', 'O\\n']\n", + "['triphosphatase', 'O\\n']\n", + "['(', 'O\\n']\n", + "['GTPase', 'O\\n']\n", + "[')', 'O\\n']\n", + "['family', 'O\\n']\n", + "['of', 'O\\n']\n", + "['vesicle', 'O\\n']\n", + "['transport', 'O\\n']\n", + "['proteins', 'O\\n']\n", + "['and', 'O\\n']\n", + "['acts', 'O\\n']\n", + "['as', 'O\\n']\n", + "['a', 'O\\n']\n", + "['negative', 'O\\n']\n", + "['regulator', 'O\\n']\n", + "['of', 'O\\n']\n", + "['hedgehog', 'O\\n']\n", + "['(', 'O\\n']\n", + "['HH', 'O\\n']\n", + "[')', 'O\\n']\n", + "['signaling', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['10', 'O\\n']\n", + "['patients', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['was', 'O\\n']\n", + "['caused', 'O\\n']\n", + "['by', 'O\\n']\n", + "['homozygosity', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['same', 'O\\n']\n", + "['nonsense', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['L145X', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['that', 'O\\n']\n", + "['resides', 'O\\n']\n", + "['on', 'O\\n']\n", + "['a', 'O\\n']\n", + "['common', 'O\\n']\n", + "['haplotype', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['indicative', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['founder', 'O\\n']\n", + "['effect', 'O\\n']\n", + "['in', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['of', 'O\\n']\n", + "['northern', 'O\\n']\n", + "['European', 'O\\n']\n", + "['descent', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Surprisingly', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['nonsense', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['of', 'O\\n']\n", + "['Rab23', 'B-Gene\\n']\n", + "['in', 'O\\n']\n", + "['open', 'O\\n']\n", + "['brain', 'O\\n']\n", + "['mice', 'O\\n']\n", + "['cause', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['embryonic', 'O\\n']\n", + "['lethality', 'O\\n']\n", + "['with', 'O\\n']\n", + "['neural', 'O\\n']\n", + "['-', 'O\\n']\n", + "['tube', 'O\\n']\n", + "['defects', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['suggesting', 'O\\n']\n", + "['a', 'O\\n']\n", + "['species', 'O\\n']\n", + "['difference', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['requirement', 'O\\n']\n", + "['for', 'O\\n']\n", + "['RAB23', 'B-Gene\\n']\n", + "['during', 'O\\n']\n", + "['early', 'O\\n']\n", + "['development', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['discovery', 'O\\n']\n", + "['of', 'O\\n']\n", + "['RAB23', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['Carpenter', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['implicates', 'O\\n']\n", + "['HH', 'O\\n']\n", + "['signaling', 'O\\n']\n", + "['in', 'O\\n']\n", + "['cranial', 'O\\n']\n", + "['-', 'O\\n']\n", + "['suture', 'O\\n']\n", + "['biogenesis', 'O\\n']\n", + "['--', 'O\\n']\n", + "['an', 'O\\n']\n", + "['unexpected', 'O\\n']\n", + "['finding', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['given', 'O\\n']\n", + "['that', 'O\\n']\n", + "['craniosynostosis', 'O\\n']\n", + "['is', 'O\\n']\n", + "['not', 'O\\n']\n", + "['usually', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['of', 'O\\n']\n", + "['other', 'O\\n']\n", + "['HH', 'O\\n']\n", + "['-', 'O\\n']\n", + "['pathway', 'O\\n']\n", + "['components', 'O\\n']\n", + "['--', 'O\\n']\n", + "['and', 'O\\n']\n", + "['provides', 'O\\n']\n", + "['a', 'O\\n']\n", + "['new', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['target', 'O\\n']\n", + "['for', 'O\\n']\n", + "['studies', 'O\\n']\n", + "['of', 'O\\n']\n", + "['obesity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#10094553\n", + "\n", + "['Identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['twenty', 'O\\n']\n", + "['-', 'O\\n']\n", + "['one', 'O\\n']\n", + "['new', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['factor', 'B-Gene\\n']\n", + "['IX', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['by', 'O\\n']\n", + "['SSCP', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['this', 'O\\n']\n", + "['study', 'O\\n']\n", + "['we', 'O\\n']\n", + "['have', 'O\\n']\n", + "['analyzed', 'O\\n']\n", + "['the', 'O\\n']\n", + "['factor', 'B-Gene\\n']\n", + "['IX', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['from', 'O\\n']\n", + "['84', 'O\\n']\n", + "['hemophilia', 'O\\n']\n", + "['B', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['of', 'O\\n']\n", + "['Spanish', 'O\\n']\n", + "['origin', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['It', 'O\\n']\n", + "['included', 'O\\n']\n", + "['single', 'O\\n']\n", + "['-', 'O\\n']\n", + "['strand', 'O\\n']\n", + "['conformation', 'O\\n']\n", + "['polymorphism', 'O\\n']\n", + "['(', 'O\\n']\n", + "['SSCP', 'O\\n']\n", + "[')', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['all', 'O\\n']\n", + "['functional', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['and', 'O\\n']\n", + "['further', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "['of', 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+ "['the', 'O\\n']\n", + "['surface', 'O\\n']\n", + "['of', 'O\\n']\n", + "['villous', 'O\\n']\n", + "['enterocytes', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['occurrence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['intracellular', 'O\\n']\n", + "['vacuoles', 'O\\n']\n", + "['lined', 'O\\n']\n", + "['by', 'O\\n']\n", + "['microvilli', 'O\\n']\n", + "['(', 'O\\n']\n", + "['microvillus', 'O\\n']\n", + "['inclusions', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cytoplasmic', 'O\\n']\n", + "['accumulation', 'O\\n']\n", + "['of', 'O\\n']\n", + "['periodic', 'O\\n']\n", + "['acid', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Schiff', 'O\\n']\n", + "['(', 'O\\n']\n", + "['PAS)-positive', 'O\\n']\n", + "['vesicles', 'O\\n']\n", + "['in', 'O\\n']\n", + "['enterocytes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Recently', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 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"['that', 'O\\n']\n", + "['are', 'O\\n']\n", + "['large', 'O\\n']\n", + "['multiprotein', 'O\\n']\n", + "['complexes', 'O\\n']\n", + "['responsible', 'O\\n']\n", + "['for', 'O\\n']\n", + "['cilia', 'O\\n']\n", + "['-', 'O\\n']\n", + "['beat', 'O\\n']\n", + "['generation', 'O\\n']\n", + "['and', 'O\\n']\n", + "['regulation', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['respectively', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Here', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['demonstrate', 'O\\n']\n", + "['that', 'O\\n']\n", + "['large', 'O\\n']\n", + "['genomic', 'O\\n']\n", + "['deletions', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['as', 'O\\n']\n", + "['well', 'O\\n']\n", + "['as', 'O\\n']\n", + "['point', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['involving', 'O\\n']\n", + "['LRRC50', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['are', 'O\\n']\n", + "['responsible', 'O\\n']\n", + 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'B-SNP\\n']\n", + "[' ', ' \\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.836A', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['G', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['C382Y', 'B-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.1145G', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['I407', 'B-SNP\\n']\n", + "['K', 'I-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.1220T', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['L414S', 'B-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.1241T', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['C', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "[';', 'O\\n']\n", + "['one', 'O\\n']\n", + "['nonsense', 'O\\n']\n", + "['W95X', 'B-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.284G', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "[';', 'O\\n']\n", + "['one', 'O\\n']\n", + "['insertion', 'O\\n']\n", + "['Y216fsX15', 'B-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.646_647insT', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "[';', 'O\\n']\n", + "['two', 'O\\n']\n", + "['small', 'O\\n']\n", + "['deletions', 'O\\n']\n", + "['G346fsX1', 'B-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.1037delG', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['K426fsX23', 'B-SNP\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.1277_1278delAA', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "[';', 'O\\n']\n", + "['one', 'O\\n']\n", + "['gross', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['comprising', 'O\\n']\n", + "['exons', 'O\\n']\n", + "['5', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['6', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['7', 'O\\n']\n", + "[';', 'O\\n']\n", + "['one', 'O\\n']\n", + "['complex', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['(', 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+ "['mutation', 'O\\n']\n", + "['and', 'O\\n']\n", + "['she', 'O\\n']\n", + "['presented', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['classic', 'O\\n']\n", + "['phenotype', 'O\\n']\n", + "['since', 'O\\n']\n", + "['the', 'O\\n']\n", + "['age', 'O\\n']\n", + "['of', 'O\\n']\n", + "['8', 'O\\n']\n", + "['years', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['this', 'O\\n']\n", + "['case', 'O\\n']\n", + "['extending', 'O\\n']\n", + "['into', 'O\\n']\n", + "['women', 'O\\n']\n", + "['the', 'O\\n']\n", + "['severe', 'O\\n']\n", + "['phenotype', 'O\\n']\n", + "['observed', 'O\\n']\n", + "['in', 'O\\n']\n", + "['classically', 'O\\n']\n", + "['affected', 'O\\n']\n", + "['males', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Mutation', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['provided', 'O\\n']\n", + "['precise', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['for', 'O\\n']\n", + "['30', 'O\\n']\n", + "['heterozygotes', 'O\\n']\n", + "['among', 'O\\n']\n", + "['female', 'O\\n']\n", + "['relatives', 'O\\n']\n", + "['and', 'O\\n']\n", + "['detection', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['de', 'O\\n']\n", + "['novo', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['studies', 'O\\n']\n", + "['on', 'O\\n']\n", + "['Spanish', 'O\\n']\n", + "['Fabry', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['here', 'O\\n']\n", + "['reported', 'O\\n']\n", + "['further', 'O\\n']\n", + "['contribute', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['new', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['this', 'O\\n']\n", + "['disease', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['allow', 'O\\n']\n", + "['reliable', 'O\\n']\n", + "['detection', 'O\\n']\n", + "['of', 'O\\n']\n", + "['heterozygotes', 'O\\n']\n", + "['which', 'O\\n']\n", + "['has', 'O\\n']\n", + "['consequences', 'O\\n']\n", + "['for', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['counselling', 'O\\n']\n", + "['and', 'O\\n']\n", + "['for', 'O\\n']\n", + "['treatment', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#18674750\n", + "\n", + "['WW', 'O\\n']\n", + "['-', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['-', 'O\\n']\n", + "['containing', 'O\\n']\n", + "['oxidoreductase', 'O\\n']\n", + "['is', 'O\\n']\n", + "['associated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['low', 'O\\n']\n", + "['plasma', 'O\\n']\n", + "['HDL', 'O\\n']\n", + "['-', 'O\\n']\n", + "['C', 'O\\n']\n", + "['levels', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Low', 'O\\n']\n", + "['serum', 'O\\n']\n", + "['HDL', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cholesterol', 'O\\n']\n", + "['(', 'O\\n']\n", + "['HDL', 'O\\n']\n", + "['-', 'O\\n']\n", + "['C', 'O\\n']\n", + "[')', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['major', 'O\\n']\n", + "['risk', 'O\\n']\n", + "['factor', 'O\\n']\n", + "['for', 'O\\n']\n", + "['coronary', 'O\\n']\n", + "['artery', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['performed', 'O\\n']\n", + "['targeted', 'O\\n']\n", + "['genotyping', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['12.4', 'O\\n']\n", + "['Mb', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['region', 'O\\n']\n", + "['on', 'O\\n']\n", + "['16q', 'O\\n']\n", + "['to', 'O\\n']\n", + "['test', 'O\\n']\n", + "['for', 'O\\n']\n", + "['association', 'O\\n']\n", + "['with', 'O\\n']\n", + "['low', 'O\\n']\n", + "['HDL', 'O\\n']\n", + "['-', 'O\\n']\n", + "['C', 'O\\n']\n", + "['by', 'O\\n']\n", + "['using', 'O\\n']\n", + "['a', 'O\\n']\n", + "['regional', 'O\\n']\n", + "['-', 'O\\n']\n", + "['tag', 'O\\n']\n", + "['SNP', 'O\\n']\n", + "['strategy', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['one', 'O\\n']\n", + "['SNP', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['rs2548861', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['WW', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['domain', 'I-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['containing', 'I-Gene\\n']\n", + "['oxidoreductase', 'I-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['WWOX', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['with', 'O\\n']\n", + "['region', 'O\\n']\n", + "['-', 'O\\n']\n", + "['wide', 'O\\n']\n", + "['significance', 'O\\n']\n", + "['for', 'O\\n']\n", + "['low', 'O\\n']\n", + "['HDL', 'O\\n']\n", + "['-', 'O\\n']\n", + "['C', 'O\\n']\n", + "['in', 'O\\n']\n", + "['dyslipidemic', 'O\\n']\n", + "['families', 'O\\n']\n", + "['of', 'O\\n']\n", + "['Mexican', 'O\\n']\n", + "['and', 'O\\n']\n", + "['European', 'O\\n']\n", + "['descent', 'O\\n']\n", + "['and', 'O\\n']\n", + "['in', 'O\\n']\n", + "['low', 'O\\n']\n", + "['-', 'O\\n']\n", + "['HDL', 'O\\n']\n", + "['-', 'O\\n']\n", + "['C', 'O\\n']\n", + "['cases', 'O\\n']\n", + "['and', 'O\\n']\n", + "['controls', 'O\\n']\n", + "['of', 'O\\n']\n", + "['European', 'O\\n']\n", + "['descent', 'O\\n']\n", + "['(', 'O\\n']\n", + "['p', 'O\\n']\n", + "['=', 'O\\n']\n", + "['6.9', 'O\\n']\n", + "['x', 'O\\n']\n", + "['10(-7', 'O\\n']\n", + "[')', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['extended', 'O\\n']\n", + "['our', 'O\\n']\n", + "['investigation', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['population', 'O\\n']\n", + "['level', 'O\\n']\n", + "['by', 'O\\n']\n", + "['using', 'O\\n']\n", + "['two', 'O\\n']\n", + "['independent', 'O\\n']\n", + "['unascertained', 'O\\n']\n", + "['population', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['Finnish', 'O\\n']\n", + "['cohorts', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['cross', 'O\\n']\n", + "['-', 'O\\n']\n", + "['sectional', 'O\\n']\n", + "['METSIM', 'O\\n']\n", + "['cohort', 'O\\n']\n", + "['of', 'O\\n']\n", + "Komma Detected\n", + "4,463,O\n", + "\n", + "['males', 'O\\n']\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['prospective', 'O\\n']\n", + "['Young', 'O\\n']\n", + "['Finns', 'O\\n']\n", + "['cohort', 'O\\n']\n", + "['of', 'O\\n']\n", + "Komma Detected\n", + "2,265,O\n", + "\n", + "['subjects', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['combined', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['provided', 'O\\n']\n", + "['p', 'O\\n']\n", + "['=', 'O\\n']\n", + "['4', 'O\\n']\n", + "['x', 'O\\n']\n", + "['10(-4', 'O\\n']\n", + "[')', 'O\\n']\n", + "['to', 'O\\n']\n", + "['2', 'O\\n']\n", + "['x', 'O\\n']\n", + "['10(-5', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Importantly', 'O\\n']\n", + "Komma 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\\n']\n", + "['Paternal', 'O\\n']\n", + "['isodisomy', 'O\\n']\n", + "['for', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['5', 'O\\n']\n", + "['was', 'O\\n']\n", + "['detected', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['2', 'O\\n']\n", + "['-', 'O\\n']\n", + "['year', 'O\\n']\n", + "['-', 'O\\n']\n", + "['old', 'O\\n']\n", + "['boy', 'O\\n']\n", + "['with', 'O\\n']\n", + "['type', 'O\\n']\n", + "['III', 'O\\n']\n", + "['spinal', 'O\\n']\n", + "['muscular', 'O\\n']\n", + "['atrophy', 'O\\n']\n", + "['(', 'B-Gene\\n']\n", + "['SMA', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['an', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['degenerative', 'O\\n']\n", + "['disorder', 'O\\n']\n", + "['of', 'O\\n']\n", + "['alpha', 'O\\n']\n", + "['motor', 'O\\n']\n", + "['neurons', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['known', 'O\\n']\n", + "['to', 'O\\n']\n", + "['map', 'O\\n']\n", + "['to', 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\\n']\n", + "['While', 'O\\n']\n", + "['the', 'O\\n']\n", + "['absence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['maternally', 'O\\n']\n", + "['derived', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['5', 'O\\n']\n", + "['could', 'O\\n']\n", + "['have', 'O\\n']\n", + "['produced', 'O\\n']\n", + "['the', 'O\\n']\n", + "['symptoms', 'O\\n']\n", + "['of', 'O\\n']\n", + "['SMA', 'B-Gene\\n']\n", + "['through', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mechanisms', 'O\\n']\n", + "['of', 'O\\n']\n", + "['genomic', 'O\\n']\n", + "['imprinting', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['lack', 'O\\n']\n", + "['of', 'O\\n']\n", + "['more', 'O\\n']\n", + "['global', 'O\\n']\n", + "['developmental', 'O\\n']\n", + "['abnormalities', 'O\\n']\n", + "['would', 'O\\n']\n", + "['be', 'O\\n']\n", + "['unusual', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Paternal', 'O\\n']\n", + "['transmission', 'O\\n']\n", + "['of', 'O\\n']\n", + "['two', 'O\\n']\n", + "['copies', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['defective', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['at', 'O\\n']\n", + "['the', 'O\\n']\n", + "['SMA', 'B-Gene\\n']\n", + "['locus', 'O\\n']\n", + "['seems', 'O\\n']\n", + "['to', 'O\\n']\n", + "['be', 'O\\n']\n", + "['the', 'O\\n']\n", + "['most', 'O\\n']\n", + "['likely', 'O\\n']\n", + "['cause', 'O\\n']\n", + "['of', 'O\\n']\n", + "['disease', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['but', 'O\\n']\n", + "['proof', 'O\\n']\n", + "['of', 'O\\n']\n", + "['this', 'O\\n']\n", + "['will', 'O\\n']\n", + "['have', 'O\\n']\n", + "['to', 'O\\n']\n", + "['await', 'O\\n']\n", + "['the', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['SMA', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['While', 'O\\n']\n", + "['uniparental', 'O\\n']\n", + "['isodisomy', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 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"['Until', 'O\\n']\n", + "['recently', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['attempts', 'O\\n']\n", + "['to', 'O\\n']\n", + "['map', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['on', 'O\\n']\n", + "['the', 'O\\n']\n", + "['basis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['population', 'O\\n']\n", + "['associations', 'O\\n']\n", + "['with', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['based', 'O\\n']\n", + "['on', 'O\\n']\n", + "['expected', 'O\\n']\n", + "['values', 'O\\n']\n", + "['of', 'O\\n']\n", + "['linkage', 'O\\n']\n", + "['disequilibrium', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['These', 'O\\n']\n", + "['methods', 'O\\n']\n", + "['suffer', 'O\\n']\n", + "['from', 'O\\n']\n", + "['the', 'O\\n']\n", + "['large', 'O\\n']\n", + "['variances', 'O\\n']\n", + "['imposed', 'O\\n']\n", + "['on', 'O\\n']\n", + "['disequilibrium', 'O\\n']\n", + "['measures', 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"['thresholds', 'O\\n']\n", + "['based', 'O\\n']\n", + "['on', 'O\\n']\n", + "['proband', 'O\\n']\n", + "['sex', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['defect', 'O\\n']\n", + "['bilaterality', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['or', 'O\\n']\n", + "['palatal', 'O\\n']\n", + "['involvement', 'O\\n']\n", + "['did', 'O\\n']\n", + "['not', 'O\\n']\n", + "['help', 'O\\n']\n", + "['to', 'O\\n']\n", + "['discriminate', 'O\\n']\n", + "['between', 'O\\n']\n", + "['these', 'O\\n']\n", + "['models', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['However', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['pattern', 'O\\n']\n", + "['of', 'O\\n']\n", + "['recurrence', 'O\\n']\n", + "['among', 'O\\n']\n", + "['MZ', 'O\\n']\n", + "['twins', 'O\\n']\n", + "['and', 'O\\n']\n", + "['more', 'O\\n']\n", + "['remote', 'O\\n']\n", + "['relatives', 'O\\n']\n", + "['of', 'O\\n']\n", + "['CL', 'O\\n']\n", + "['+', 'O\\n']\n", + "['/-', 'O\\n']\n", + "[' ', ' \\n']\n", + "['P', 'O\\n']\n", + "['probands', 'O\\n']\n", + "['is', 'O\\n']\n", + "['not', 'O\\n']\n", + "['consistent', 'O\\n']\n", + "['with', 'O\\n']\n", + "['gSML', 'O\\n']\n", + "['inheritance', 'O\\n']\n", + "['but', 'O\\n']\n", + "['is', 'O\\n']\n", + "['compatible', 'O\\n']\n", + "['with', 'O\\n']\n", + "['either', 'O\\n']\n", + "['an', 'O\\n']\n", + "['MFT', 'O\\n']\n", + "['model', 'O\\n']\n", + "['or', 'O\\n']\n", + "['a', 'O\\n']\n", + "['model', 'O\\n']\n", + "['specifying', 'O\\n']\n", + "['multiple', 'O\\n']\n", + "['interacting', 'O\\n']\n", + "['loci', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['For', 'O\\n']\n", + "['such', 'O\\n']\n", + "['a', 'O\\n']\n", + "['model', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['no', 'O\\n']\n", + "['single', 'O\\n']\n", + "['locus', 'O\\n']\n", + "['can', 'O\\n']\n", + "['account', 'O\\n']\n", + "['for', 'O\\n']\n", + "['more', 'O\\n']\n", + "['than', 'O\\n']\n", + "['a', 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\\n']\n", + "['This', 'O\\n']\n", + "['study', 'O\\n']\n", + "['provides', 'O\\n']\n", + "['valuable', 'O\\n']\n", + "['predictors', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['splicing', 'O\\n']\n", + "['pathway', 'O\\n']\n", + "['used', 'O\\n']\n", + "['upon', 'O\\n']\n", + "[\"5'ss\", 'O\\n']\n", + "['mutation', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['underscores', 'O\\n']\n", + "['the', 'O\\n']\n", + "['importance', 'O\\n']\n", + "['of', 'O\\n']\n", + "['using', 'O\\n']\n", + "['RNA', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['techniques', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['together', 'O\\n']\n", + "['with', 'O\\n']\n", + "['methods', 'O\\n']\n", + "['to', 'O\\n']\n", + "['identify', 'O\\n']\n", + "['microdeletions', 'O\\n']\n", + "['and', 'O\\n']\n", + "['intragenic', 'O\\n']\n", + "['copy', 'O\\n']\n", + "['-', 'O\\n']\n", + "['number', 'O\\n']\n", + "['changes', 'O\\n']\n", + 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"['mutations', 'O\\n']\n", + "['discovered', 'O\\n']\n", + "['by', 'O\\n']\n", + "['our', 'O\\n']\n", + "['group', 'O\\n']\n", + "['and', 'O\\n']\n", + "['by', 'O\\n']\n", + "['others', 'O\\n']\n", + "['since', 'O\\n']\n", + "['the', 'O\\n']\n", + "['WRN', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['(', 'O\\n']\n", + "['also', 'O\\n']\n", + "['called', 'O\\n']\n", + "['RECQL2', 'B-Gene\\n']\n", + "['or', 'O\\n']\n", + "['REQ3', 'B-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['was', 'O\\n']\n", + "['first', 'O\\n']\n", + "['cloned', 'O\\n']\n", + "['in', 'O\\n']\n", + "['1996', 'O\\n']\n", + "[';', 'O\\n']\n", + "['25', 'O\\n']\n", + "['of', 'O\\n']\n", + "['these', 'O\\n']\n", + "['have', 'O\\n']\n", + "['not', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['been', 'O\\n']\n", + "['published', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['All', 'O\\n']\n", + "['WRN', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['reported', 'O\\n']\n", + "['thus', 'O\\n']\n", + "['far', 'O\\n']\n", + "['have', 'O\\n']\n", + "['resulted', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['elimination', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['nuclear', 'O\\n']\n", + "['localization', 'O\\n']\n", + "['signal', 'O\\n']\n", + "['at', 'O\\n']\n", + "['the', 'O\\n']\n", + "['C', 'O\\n']\n", + "['-', 'O\\n']\n", + "['terminus', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['protein', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['precluding', 'O\\n']\n", + "['functional', 'O\\n']\n", + "['interactions', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['nucleus', 'O\\n']\n", + "[';', 'O\\n']\n", + "['thus', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['all', 'O\\n']\n", + "['could', 'O\\n']\n", + "['be', 'O\\n']\n", + "['classified', 'O\\n']\n", + "['as', 'O\\n']\n", + "['null', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['now', 'O\\n']\n", + "['report', 'O\\n']\n", + "['two', 'O\\n']\n", + "['new', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['N', 'O\\n']\n", + "['-', 'O\\n']\n", + "['terminus', 'O\\n']\n", + "['that', 'O\\n']\n", + "['result', 'O\\n']\n", + "['in', 'O\\n']\n", + "['instability', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['WRN', 'B-Gene\\n']\n", + "['protein', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Clinical', 'O\\n']\n", + "['data', 'O\\n']\n", + "['confirm', 'O\\n']\n", + "['that', 'O\\n']\n", + "['the', 'O\\n']\n", + "['most', 'O\\n']\n", + "['penetrant', 'O\\n']\n", + "['phenotype', 'O\\n']\n", + "['is', 'O\\n']\n", + "['bilateral', 'O\\n']\n", + "['ocular', 'O\\n']\n", + "['cataracts', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Other', 'O\\n']\n", + "['cardinal', 'O\\n']\n", + "['signs', 'O\\n']\n", + "['were', 'O\\n']\n", + "['seen', 'O\\n']\n", + "['in', 'O\\n']\n", + "['more', 'O\\n']\n", + "['than', 'O\\n']\n", + "['95', 'O\\n']\n", + "['%', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cases', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['median', 'O\\n']\n", + "['age', 'O\\n']\n", + "['of', 'O\\n']\n", + "['death', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['previously', 'O\\n']\n", + "['reported', 'O\\n']\n", + "['to', 'O\\n']\n", + "['be', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['range', 'O\\n']\n", + "['of', 'O\\n']\n", + "['46', 'O\\n']\n", + "['-', 'O\\n']\n", + "['48', 'O\\n']\n", + "['years', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['is', 'O\\n']\n", + "['54', 'O\\n']\n", + "['years', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Lymphoblastoid', 'O\\n']\n", + "['cell', 'O\\n']\n", + "['lines', 'O\\n']\n", + "['(', 'O\\n']\n", + "['LCLs', 'O\\n']\n", + "[')', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['cryopreserved', 'O\\n']\n", + "['from', 'O\\n']\n", + "['the', 'O\\n']\n", + "['majority', 'O\\n']\n", + "['of', 'O\\n']\n", + "['our', 'O\\n']\n", + "['index', 'O\\n']\n", + "['cases', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['including', 'O\\n']\n", + "['material', 'O\\n']\n", + "['from', 'O\\n']\n", + "['nuclear', 'O\\n']\n", + "['pedigrees', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['These', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['as', 'O\\n']\n", + "['well', 'O\\n']\n", + "['as', 'O\\n']\n", + "['inducible', 'O\\n']\n", + "['and', 'O\\n']\n", + "['complemented', 'O\\n']\n", + "['hTERT', 'O\\n']\n", + "['(', 'O\\n']\n", + "['catalytic', 'O\\n']\n", + "['subunit', 'O\\n']\n", + "['of', 'O\\n']\n", + "['human', 'O\\n']\n", + "['telomerase', 'O\\n']\n", + "[')', 'O\\n']\n", + "['immortalized', 'O\\n']\n", + "['skin', 'O\\n']\n", + "['fibroblast', 'O\\n']\n", + "['cell', 'O\\n']\n", + "['lines', 'O\\n']\n", + "['are', 'O\\n']\n", + "['available', 'O\\n']\n", + "['to', 'O\\n']\n", + "['qualified', 'O\\n']\n", + "['investigators', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#9090528\n", + "\n", + "['Mutations', 'O\\n']\n", + "['and', 'O\\n']\n", + "['DNA', 'O\\n']\n", + "['diagnoses', 'O\\n']\n", + "['of', 'O\\n']\n", + "['classical', 'O\\n']\n", + "['citrullinemia', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Classical', 'O\\n']\n", + "['citrullinemia', 'O\\n']\n", + "['is', 'O\\n']\n", + "['an', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['caused', 'O\\n']\n", + "['by', 'O\\n']\n", + "['a', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['deficiency', 'O\\n']\n", + "['of', 'O\\n']\n", + "['argininosuccinate', 'O\\n']\n", + "['synthetase', 'O\\n']\n", + "['(', 'O\\n']\n", + "['ASS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['have', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['20', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['ASS', 'B-Gene\\n']\n", + "['mRNA', 'O\\n']\n", + "['of', 'O\\n']\n", + "['human', 'O\\n']\n", + "['classical', 'O\\n']\n", + "['citrullinemia', 'O\\n']\n", + "['and', 'O\\n']\n", + "['already', 'O\\n']\n", + "['established', 'O\\n']\n", + "['the', 'O\\n']\n", + "['DNA', 'O\\n']\n", + "['diagnosis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['seven', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['as', 'O\\n']\n", + "['follows', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['By', 'O\\n']\n", + "['Southern', 'O\\n']\n", + "['blot', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['each', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['alleles', 'O\\n']\n", + "['with', 'O\\n']\n", + "['exon', 'O\\n']\n", + "['5', 'O\\n']\n", + "['or', 'O\\n']\n", + "['6', 'O\\n']\n", + "['deletion', 'O\\n']\n", + 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+ "['father', 'O\\n']\n", + "[\"'s\", 'O\\n']\n", + "['spermatozoa', 'O\\n']\n", + "['and', 'O\\n']\n", + "['lymphocytes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Mosaicism', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['father', 'O\\n']\n", + "[\"'s\", 'O\\n']\n", + "['germline', 'O\\n']\n", + "['explains', 'O\\n']\n", + "['the', 'O\\n']\n", + "['occurrence', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['family', 'O\\n']\n", + "['of', 'O\\n']\n", + "['two', 'O\\n']\n", + "['additional', 'O\\n']\n", + "['OI', 'O\\n']\n", + "['pregnancies', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['were', 'O\\n']\n", + "['documented', 'O\\n']\n", + "['by', 'O\\n']\n", + "['X', 'O\\n']\n", + "['-', 'O\\n']\n", + "['ray', 'O\\n']\n", + "['and', 'O\\n']\n", + "['ultrasound', 'O\\n']\n", + "['investigations', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#10649495\n", + "\n", + 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'O\\n']\n", + "['pathogenicity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#17721928\n", + "\n", + "['Identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['first', 'O\\n']\n", + "['germline', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['extracellular', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['follitropin', 'O\\n']\n", + "['receptor', 'O\\n']\n", + "['responsible', 'O\\n']\n", + "['for', 'O\\n']\n", + "['spontaneous', 'O\\n']\n", + "['ovarian', 'O\\n']\n", + "['hyperstimulation', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['receptors', 'O\\n']\n", + "['for', 'O\\n']\n", + "['follitropin', 'B-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['FSHR', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['thyrotropin', 'B-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['TSHR', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['lutropin', 'B-Gene\\n']\n", + "['/', 'I-Gene\\n']\n", + "['chorionic', 'I-Gene\\n']\n", + "['gonadotropin', 'I-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['LHCGR', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['are', 'O\\n']\n", + "['the', 'O\\n']\n", + "['members', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['glycoprotein', 'B-Gene\\n']\n", + "['hormone', 'I-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['GPH', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['receptors', 'O\\n']\n", + "['(', 'B-Gene\\n']\n", + "['GPHR', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['family', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['They', 'O\\n']\n", + "['present', 'O\\n']\n", + "['a', 'O\\n']\n", + "['bipartite', 'O\\n']\n", + "['structure', 'O\\n']\n", + "['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['large', 'O\\n']\n", + "['extracellular', 'O\\n']\n", + "['amino', 'O\\n']\n", + "['-', 'O\\n']\n", + "['terminal', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['(', 'O\\n']\n", + "['ECD', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['responsible', 'O\\n']\n", + "['for', 'O\\n']\n", + "['high', 'O\\n']\n", + "['-', 'O\\n']\n", + "['affinity', 'O\\n']\n", + "['hormone', 'O\\n']\n", + "['binding', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['a', 'O\\n']\n", + "['carboxyl', 'O\\n']\n", + "['-', 'O\\n']\n", + "['terminal', 'O\\n']\n", + "['serpentine', 'O\\n']\n", + "['region', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['implicated', 'O\\n']\n", + "['in', 'O\\n']\n", + "['transduction', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['activation', 'O\\n']\n", + "['signal', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Spontaneous', 'O\\n']\n", + "['ovarian', 'O\\n']\n", + "['hyperstimulation', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['(', 'O\\n']\n", + "['sOHSS', 'O\\n']\n", + "[')', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['rare', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['condition', 'O\\n']\n", + "['in', 'O\\n']\n", + "['which', 'O\\n']\n", + "['human', 'O\\n']\n", + "['chorionic', 'O\\n']\n", + "['gonadotropin', 'O\\n']\n", + "['(', 'O\\n']\n", + "['hCG', 'O\\n']\n", + "[')', 'O\\n']\n", + "['promiscuously', 'O\\n']\n", + "['stimulates', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FSHR', 'O\\n']\n", + "['during', 'O\\n']\n", + "['the', 'O\\n']\n", + "['first', 'O\\n']\n", + "['trimester', 'O\\n']\n", + "['of', 'O\\n']\n", + "['pregnancy', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Surprisingly', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['germline', 'O\\n']\n", + "['FSHR', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['responsible', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['have', 'O\\n']\n", + "['so', 'O\\n']\n", + "['far', 'O\\n']\n", + "['been', 'O\\n']\n", + "['found', 'O\\n']\n", + "['only', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['transmembrane', 'O\\n']\n", + "['helices', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['serpentine', 'O\\n']\n", + "['region', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FSHR', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['outside', 'O\\n']\n", + "['the', 'O\\n']\n", + "['hormone', 'O\\n']\n", + "['binding', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['When', 'O\\n']\n", + "['tested', 'O\\n']\n", + "['functionally', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['all', 'O\\n']\n", + "['mutants', 'O\\n']\n", + "['were', 'O\\n']\n", + "['abnormally', 'O\\n']\n", + "['sensitive', 'O\\n']\n", + "['to', 'O\\n']\n", + "['both', 'O\\n']\n", + "['hCG', 'O\\n']\n", + "['and', 'O\\n']\n", + "['thyrotropin', 'O\\n']\n", + "['(', 'O\\n']\n", + "['TSH', 'O\\n']\n", + "[')', 'O\\n']\n", + "['while', 'O\\n']\n", + "['displaying', 'O\\n']\n", + "['constitutive', 'O\\n']\n", + "['activity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['This', 'O\\n']\n", + "['loss', 'O\\n']\n", + "['of', 'O\\n']\n", + "['ligand', 'O\\n']\n", + "['specificity', 'O\\n']\n", + "['was', 'O\\n']\n", + "['attributed', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['lowering', 'O\\n']\n", + "['of', 'O\\n']\n", + "['an', 'O\\n']\n", + "['intramolecular', 'O\\n']\n", + "['barrier', 'O\\n']\n", + "['of', 'O\\n']\n", + "['activation', 'O\\n']\n", + "['rather', 'O\\n']\n", + "['than', 'O\\n']\n", + "['to', 'O\\n']\n", + "['an', 'O\\n']\n", + "['increase', 'O\\n']\n", + "['of', 'O\\n']\n", + "['binding', 'O\\n']\n", + "['affinity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Here', 'O\\n']\n", + "['we', 'O\\n']\n", + "['report', 'O\\n']\n", + "['the', 'O\\n']\n", + "['first', 'O\\n']\n", + "['germline', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['responsible', 'O\\n']\n", + "['for', 'O\\n']\n", + "['sOHSS', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.383C', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['p.', 'B-SNP\\n']\n", + "['Ser128Tyr', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['located', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['ECD', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FSHR', 'B-Gene\\n']\n", + "['.', 'I-Gene\\n']\n", + "[' ', ' \\n']\n", + "['Contrary', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['described', 'O\\n']\n", + "['previously', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['p.', 'B-SNP\\n']\n", + "['Ser128Tyr', 'I-SNP\\n']\n", + "[' ', ' \\n']\n", + "['FSHR', 'B-Gene\\n']\n", + "['mutant', 'O\\n']\n", + "['displayed', 'O\\n']\n", + "['increase', 'O\\n']\n", + "['in', 'O\\n']\n", + "['affinity', 'O\\n']\n", + "['and', 'O\\n']\n", + "['sensitivity', 'O\\n']\n", + "['toward', 'O\\n']\n", + "['hCG', 'O\\n']\n", + "['and', 'O\\n']\n", + "['did', 'O\\n']\n", + "['not', 'O\\n']\n", + "['show', 'O\\n']\n", + "['any', 'O\\n']\n", + "['constitutive', 'O\\n']\n", + "['activity', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['nor', 'O\\n']\n", + "['promiscuous', 'O\\n']\n", + "['activation', 'O\\n']\n", + "['by', 'O\\n']\n", + "['TSH', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Thus', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['sOHSS', 'O\\n']\n", + "['can', 'O\\n']\n", + "['be', 'O\\n']\n", + "['achieved', 'O\\n']\n", + "['from', 'O\\n']\n", + "['different', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['mechanisms', 'O\\n']\n", + "['involving', 'O\\n']\n", + "['each', 'O\\n']\n", + "['functional', 'O\\n']\n", + "['domains', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FSHR', 'B-Gene\\n']\n", + "['.', 'I-Gene\\n']\n", + "[' ', ' \\n']\n", + "['Based', 'O\\n']\n", + "['on', 'O\\n']\n", + "['the', 'O\\n']\n", + "['structure', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FSHR', 'B-Gene\\n']\n", + "['/', 'B-Gene\\n']\n", + "['FSH', 'I-Gene\\n']\n", + "['complex', 'O\\n']\n", + "['and', 'O\\n']\n", + "['site', 'O\\n']\n", + "['-', 'O\\n']\n", + "['directed', 'O\\n']\n", + "['mutagenesis', 'O\\n']\n", + "['studies', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['provide', 'O\\n']\n", + "['robust', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['models', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['GPH', 'B-Gene\\n']\n", + "['/', 'B-Gene\\n']\n", + "['GPHR', 'I-Gene\\n']\n", + "['complexes', 'O\\n']\n", + "['and', 'O\\n']\n", + "['we', 'O\\n']\n", + "['propose', 'O\\n']\n", + "['a', 'O\\n']\n", + "['molecular', 'O\\n']\n", + "['explanation', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['binding', 'O\\n']\n", + "['characteristics', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['p.', 'B-SNP\\n']\n", + "['Ser128Tyr', 'I-SNP\\n']\n", + "['mutant', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#20602914\n", + "\n", + "['Whole', 'O\\n']\n", + "['exome', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "['and', 'O\\n']\n", + "['homozygosity', 'O\\n']\n", + "['mapping', 'O\\n']\n", + "['identify', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cell', 'O\\n']\n", + "['polarity', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['GPSM2', 'B-Gene\\n']\n", + "['as', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cause', 'O\\n']\n", + "['of', 'O\\n']\n", + "['nonsyndromic', 'O\\n']\n", + "['hearing', 'O\\n']\n", + "['loss', 'O\\n']\n", + "['DFNB82', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Massively', 'O\\n']\n", + "['parallel', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "['of', 'O\\n']\n", + "['targeted', 'O\\n']\n", + "['regions', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['exomes', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['complete', 'O\\n']\n", + "['genomes', 'O\\n']\n", + "['has', 'O\\n']\n", + "['begun', 'O\\n']\n", + "['to', 'O\\n']\n", + "['dramatically', 'O\\n']\n", + "['increase', 'O\\n']\n", + "['the', 'O\\n']\n", + "['pace', 'O\\n']\n", + "['of', 'O\\n']\n", + "['discovery', 'O\\n']\n", + "['of', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['responsible', 'O\\n']\n", + "['for', 'O\\n']\n", + "['human', 'O\\n']\n", + "['disorders', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Here', 'O\\n']\n", + "['we', 'O\\n']\n", + "['describe', 'O\\n']\n", + "['how', 'O\\n']\n", + "['exome', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "['in', 'O\\n']\n", + "['conjunction', 'O\\n']\n", + "['with', 'O\\n']\n", + "['homozygosity', 'O\\n']\n", + "['mapping', 'O\\n']\n", + "['led', 'O\\n']\n", + "['to', 'O\\n']\n", + "['rapid', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['causative', 'O\\n']\n", + "['allele', 'O\\n']\n", + "['for', 'O\\n']\n", + "['nonsyndromic', 'O\\n']\n", + "['hearing', 'O\\n']\n", + "['loss', 'O\\n']\n", + "['DFNB82', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['consanguineous', 'O\\n']\n", + "['Palestinian', 'O\\n']\n", + "['family', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['After', 'O\\n']\n", + "['filtering', 'O\\n']\n", + "['out', 'O\\n']\n", + "['worldwide', 'O\\n']\n", + "['and', 'O\\n']\n", + "['population', 'O\\n']\n", + "['-', 'O\\n']\n", + "['specific', 'O\\n']\n", + "['polymorphisms', 'O\\n']\n", + "['from', 'O\\n']\n", + "['the', 'O\\n']\n", + "['whole', 'O\\n']\n", + "['exome', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['only', 'O\\n']\n", + "['a', 'O\\n']\n", + "['single', 'O\\n']\n", + "['deleterious', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['remained', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['homozygous', 'O\\n']\n", + "['region', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['to', 'O\\n']\n", + "['DFNB82', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['nonsense', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['leads', 'O\\n']\n", + "['to', 'O\\n']\n", + "['an', 'O\\n']\n", + "['early', 'O\\n']\n", + "['truncation', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['G', 'B-Gene\\n']\n", + "['protein', 'I-Gene\\n']\n", + "['signaling', 'I-Gene\\n']\n", + "['modulator', 'I-Gene\\n']\n", + "['GPSM2', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['a', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['that', 'O\\n']\n", + "['is', 'O\\n']\n", + "['essential', 'O\\n']\n", + "['for', 'O\\n']\n", + "['maintenance', 'O\\n']\n", + "['of', 'O\\n']\n", + "['cell', 'O\\n']\n", 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"['families', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['for', 'O\\n']\n", + "['linkage', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['to', 'O\\n']\n", + "['obesity', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['236', 'O\\n']\n", + "['sib', 'O\\n']\n", + "['pairs', 'O\\n']\n", + "['in', 'O\\n']\n", + "['82', 'O\\n']\n", + "['nuclear', 'O\\n']\n", + "['families', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['for', 'O\\n']\n", + "['linkage', 'O\\n']\n", + "['analysis', 'O\\n']\n", + "['to', 'O\\n']\n", + "['energy', 'O\\n']\n", + "['metabolism', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Pointwise', 'O\\n']\n", + "['and', 'O\\n']\n", + "['multipoint', 'O\\n']\n", + "['methods', 'O\\n']\n", + "['for', 'O\\n']\n", + "['regression', 'O\\n']\n", + "['of', 'O\\n']\n", + "['sib', 'O\\n']\n", + "['-', 'O\\n']\n", + "['pair', 'O\\n']\n", + "['differences', 'O\\n']\n", + "['in', 'O\\n']\n", + "['identity', 'O\\n']\n", 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+ "[';', 'O\\n']\n", + "['P=.001', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['at', 'O\\n']\n", + "['11q23', 'O\\n']\n", + "['-', 'O\\n']\n", + "['q24', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['for', 'O\\n']\n", + "['24', 'O\\n']\n", + "['-', 'O\\n']\n", + "['h', 'O\\n']\n", + "['energy', 'O\\n']\n", + "['expenditure', 'O\\n']\n", + "['(', 'O\\n']\n", + "['LOD=2.0', 'O\\n']\n", + "[';', 'O\\n']\n", + "['P=.001', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['at', 'O\\n']\n", + "['1p31', 'O\\n']\n", + "['-', 'O\\n']\n", + "['p21', 'O\\n']\n", + "['(', 'O\\n']\n", + "['LOD=2.0', 'O\\n']\n", + "[')', 'O\\n']\n", + "['and', 'O\\n']\n", + "['20q11.2', 'O\\n']\n", + "['(', 'O\\n']\n", + "['LOD=3.0', 'O\\n']\n", + "[';', 'O\\n']\n", + "['P=.0001', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['for', 'O\\n']\n", + "['24RQ', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['by', 'O\\n']\n", + "['pointwise', 'O\\n']\n", + "['and', 'O\\n']\n", + "['multipoint', 'O\\n']\n", + "['analyses', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['With', 'O\\n']\n", + "['the', 'O\\n']\n", + "['variance', 'O\\n']\n", + "['-', 'O\\n']\n", + "['components', 'O\\n']\n", + "['method', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['highest', 'O\\n']\n", + "['LOD', 'O\\n']\n", + "['score', 'O\\n']\n", + "['(', 'O\\n']\n", + "['LOD=2.3', 'O\\n']\n", + "['P=.0006', 'O\\n']\n", + "[')', 'O\\n']\n", + "['was', 'O\\n']\n", + "['found', 'O\\n']\n", + "['at', 'O\\n']\n", + "['18q21', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['for', 'O\\n']\n", + "['percent', 'O\\n']\n", + "['body', 'O\\n']\n", + "['fat', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['at', 'O\\n']\n", + "['1p31', 'O\\n']\n", + "['-', 'O\\n']\n", + "['p21', 'O\\n']\n", + "['(', 'O\\n']\n", + "['LOD=2.8', 'O\\n']\n", + "[';', 'O\\n']\n", + "['P=.0003', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['for', 'O\\n']\n", + "['24RQ', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Possible', 'O\\n']\n", + "['candidate', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['include', 'O\\n']\n", + "['LEPR', 'B-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['leptin', 'I-Gene\\n']\n", + "['receptor', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['at', 'O\\n']\n", + "['1p31', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['ASIP', 'B-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['agouti', 'I-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['signaling', 'I-Gene\\n']\n", + "['protein', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['at', 'O\\n']\n", + "['20q11.2', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag 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'O\\n']\n", + "['both', 'O\\n']\n", + "['males', 'O\\n']\n", + "['and', 'O\\n']\n", + "['females', 'O\\n']\n", + "['and', 'O\\n']\n", + "['is', 'O\\n']\n", + "['characterized', 'O\\n']\n", + "['by', 'O\\n']\n", + "['a', 'O\\n']\n", + "['complete', 'O\\n']\n", + "['absence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['hair', 'O\\n']\n", + "['follicles', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Recently', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['a', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['human', 'O\\n']\n", + "['hairless', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['was', 'O\\n']\n", + "['implicated', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['pathogenesis', 'O\\n']\n", + "['of', 'O\\n']\n", + "['congenital', 'O\\n']\n", + "['atrichia', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['human', 'O\\n']\n", + "['hairless', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['encodes', 'O\\n']\n", + "['a', 'O\\n']\n", + "['putative', 'O\\n']\n", + "['single', 'O\\n']\n", + "['zinc', 'O\\n']\n", + "['-', 'O\\n']\n", + "['finger', 'O\\n']\n", + "['transcription', 'O\\n']\n", + "['-', 'O\\n']\n", + "['factor', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['with', 'O\\n']\n", + "['restricted', 'O\\n']\n", + "['expression', 'O\\n']\n", + "['in', 'O\\n']\n", + "['brain', 'O\\n']\n", + "['and', 'O\\n']\n", + "['skin', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['is', 'O\\n']\n", + "['believed', 'O\\n']\n", + "['to', 'O\\n']\n", + "['regulate', 'O\\n']\n", + "['catagen', 'O\\n']\n", + "['remodeling', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['hair', 'O\\n']\n", + "['cycle', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['this', 'O\\n']\n", + "['study', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['report', 'O\\n']\n", + "['the', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['missense', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['zinc', 'O\\n']\n", + "['-', 'O\\n']\n", + "['finger', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['hairless', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['large', 'O\\n']\n", + "['inbred', 'O\\n']\n", + "['family', 'O\\n']\n", + "['of', 'O\\n']\n", + "['Irish', 'O\\n']\n", + "['Travellers', 'O\\n']\n", + "['with', 'O\\n']\n", + "['congenital', 'O\\n']\n", + "['atrichia', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['mutated', 'O\\n']\n", + "['arginine', 'O\\n']\n", + "['residue', 'O\\n']\n", + "['is', 'O\\n']\n", + "['conserved', 'O\\n']\n", + "['among', 'O\\n']\n", + "['human', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['mouse', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['rat', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['suggesting', 'O\\n']\n", + "['that', 'O\\n']\n", + "['it', 'O\\n']\n", + "['is', 'O\\n']\n", + "['of', 'O\\n']\n", + "['significant', 'O\\n']\n", + "['importance', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['function', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['zinc', 'O\\n']\n", + "['-', 'O\\n']\n", + "['finger', 'O\\n']\n", + "['domain', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#9792853\n", + "\n", + "['Development', 'O\\n']\n", + "['and', 'O\\n']\n", + "['maintenance', 'O\\n']\n", + "['of', 'O\\n']\n", + "['ear', 'O\\n']\n", + "['innervation', 'O\\n']\n", + "['and', 'O\\n']\n", + "['function', 'O\\n']\n", + "[':', 'O\\n']\n", + "['lessons', 'O\\n']\n", + "['from', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['mouse', 'O\\n']\n", + "['and', 'O\\n']\n", + "['man', 'O\\n']\n", + "['.', 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"['were', 'O\\n']\n", + "['characterized', 'O\\n']\n", + "['clinically', 'O\\n']\n", + "['and', 'O\\n']\n", + "['genetically', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Haplotype', 'O\\n']\n", + "['and', 'O\\n']\n", + "['linkage', 'O\\n']\n", + "['analyses', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['with', 'O\\n']\n", + "['microsatellites', 'O\\n']\n", + "['covering', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FSP', 'O\\n']\n", + "['region', 'O\\n']\n", + "['on', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['14q', 'O\\n']\n", + "['(', 'O\\n']\n", + "['locus', 'O\\n']\n", + "['FSP1', 'B-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['were', 'O\\n']\n", + "['performed', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['pedigree', 'O\\n']\n", + "['W', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['found', 'O\\n']\n", + "['a', 'O\\n']\n", + "['haplotype', 'O\\n']\n", + "['that', 'O\\n']\n", + "['cosegregates', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['and', 'O\\n']\n", + "['observed', 'O\\n']\n", + "['three', 'O\\n']\n", + "['crossing', 'O\\n']\n", + "['-', 'O\\n']\n", + "['over', 'O\\n']\n", + "['events', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['reducing', 'O\\n']\n", + "['the', 'O\\n']\n", + "['FSP1', 'B-Gene\\n']\n", + "['candidate', 'O\\n']\n", + "['region', 'O\\n']\n", + "['to', 'O\\n']\n", + "['7', 'O\\n']\n", + "['cM', 'O\\n']\n", + "[';', 'O\\n']\n", + "['in', 'O\\n']\n", + "['addition', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['observation', 'O\\n']\n", + "['of', 'O\\n']\n", + "['apparent', 'O\\n']\n", + "['anticipation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['this', 'O\\n']\n", + "['family', 'O\\n']\n", + "['suggests', 'O\\n']\n", + "['a', 'O\\n']\n", + "['trinucleotide', 'O\\n']\n", + "['repeat', 'O\\n']\n", + "['expansion', 'O\\n']\n", + "['as', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['pedigrees', 'O\\n']\n", + "['D', 'O\\n']\n", + "['and', 'O\\n']\n", + "['S', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['locus', 'O\\n']\n", + "['could', 'O\\n']\n", + "['be', 'O\\n']\n", + "['excluded', 'O\\n']\n", + "['from', 'O\\n']\n", + "['the', 'O\\n']\n", + "['whole', 'O\\n']\n", + "['FSP1', 'B-Gene\\n']\n", + "['region', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['confirming', 'O\\n']\n", + "['the', 'O\\n']\n", + "['locus', 'O\\n']\n", + "['heterogeneity', 'O\\n']\n", + "['of', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['dominant', 'O\\n']\n", + "['FSP', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#15365995\n", + "\n", + "['Germline', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['MLH1', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['MSH2', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + "['MSH6', 'B-Gene\\n']\n", + "['in', 'O\\n']\n", + "['Korean', 'O\\n']\n", + "['hereditary', 'O\\n']\n", + "['non', 'O\\n']\n", + "['-', 'O\\n']\n", + "['polyposis', 'O\\n']\n", + "['colorectal', 'O\\n']\n", + "['cancer', 'O\\n']\n", + "['families', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Hereditary', 'O\\n']\n", + "['non', 'O\\n']\n", + "['-', 'O\\n']\n", + "['polyposis', 'O\\n']\n", + "['colorectal', 'O\\n']\n", + "['cancer', 'O\\n']\n", + "['(', 'O\\n']\n", + "['HNPCC', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['most', 'O\\n']\n", + "['common', 'O\\n']\n", + "['hereditary', 'O\\n']\n", + "['colon', 'O\\n']\n", + "['cancer', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['dominant', 'O\\n']\n", + "['disorder', 'O\\n']\n", + "['caused', 'O\\n']\n", + "['by', 'O\\n']\n", + "['germline', 'O\\n']\n", + "['defects', 'O\\n']\n", + "['in', 'O\\n']\n", + "['mismatch', 'B-Gene\\n']\n", + "['repair', 'I-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['MMR', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['genes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['MMR', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['can', 'O\\n']\n", + "['have', 'O\\n']\n", + "['direct', 'O\\n']\n", + "['clinical', 'O\\n']\n", + "['implications', 'O\\n']\n", + "['in', 'O\\n']\n", + "['counseling', 'O\\n']\n", + "['and', 'O\\n']\n", + "['management', 'O\\n']\n", + "['of', 'O\\n']\n", + "['HNPCC', 'O\\n']\n", + "['families', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['screened', 'O\\n']\n", + "['44', 'O\\n']\n", + "['HNPCC', 'O\\n']\n", + "['and', 'O\\n']\n", + "['97', 'O\\n']\n", + "['suspected', 'O\\n']\n", + "['HNPCC', 'O\\n']\n", + "['Korean', 'O\\n']\n", + "['families', 'O\\n']\n", + "['for', 'O\\n']\n", + "['germline', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['three', 'O\\n']\n", + "['MMR', 'B-Gene\\n']\n", + "['genes', 'O\\n']\n", + "[':', 'O\\n']\n", + "['MLH1', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['MSH2', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + "['MSH6', 'B-Gene\\n']\n", + "['.', 'I-Gene\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['twelve', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "[':', 'O\\n']\n", + "['nine', 'O\\n']\n", + "['in', 'O\\n']\n", + "['MLH1(c.632_633insT', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.808_811delACTT', 'B-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.845C', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['G', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.1625A', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['C', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.1730', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['1delG', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.1907T', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['C', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.1918C', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.2104', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['2A', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['G', 'I-SNP\\n']\n", + "['and', 'O\\n']\n", + "['c.2170T', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['two', 'O\\n']\n", + "['in', 'O\\n']\n", + "['MSH2', 'B-Gene\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.1886A', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['G', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['c.1316_1318delCCT', 'B-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['and', 'O\\n']\n", + "['one', 'O\\n']\n", + "['in', 'O\\n']\n", + "['MSH6', 'B-Gene\\n']\n", + "['(', 'B-SNP\\n']\n", + "['c.3488A', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['T', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['addition', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['two', 'O\\n']\n", + "['statically', 'O\\n']\n", + "['significant', 'O\\n']\n", + "['cSNPs', 'O\\n']\n", + "['in', 'O\\n']\n", + "['MLH1', 'B-Gene\\n']\n", + "[':', 'I-Gene\\n']\n", + "['c.1128T', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['C', 'I-SNP\\n']\n", + "['(', 'O\\n']\n", + "['p=0.008', 'O\\n']\n", + "['in', 'O\\n']\n", + "['HNPCC', 'O\\n']\n", + "['and', 'O\\n']\n", + "['p=0.037', 'O\\n']\n", + "['in', 'O\\n']\n", + "['early', 'O\\n']\n", + "['-', 'O\\n']\n", + "['onset', 'O\\n']\n", + "['CRC', 'O\\n']\n", + "[')', 'O\\n']\n", + "['and', 'O\\n']\n", + "['c.2168C', 'B-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['A', 'I-SNP\\n']\n", + "['(', 'O\\n']\n", + "['p<0.001', 'O\\n']\n", + "['in', 'O\\n']\n", + "['HNPCC', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Interestingly', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['most', 'O\\n']\n", + "['frequent', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['c.1757_1758insC', 'B-SNP\\n']\n", + "['in', 'O\\n']\n", + "['MLH1', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['was', 'O\\n']\n", + "['a', 'O\\n']\n", + "['founder', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['inherited', 'O\\n']\n", + "['from', 'O\\n']\n", + "['a', 'O\\n']\n", + "['common', 'O\\n']\n", + "['Korean', 'O\\n']\n", + "['ancestor', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#10739764\n", + "\n", + "['Different', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['LMNA', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['cause', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['dominant', 'O\\n']\n", + "['and', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['recessive', 'O\\n']\n", + "['Emery', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Dreifuss', 'O\\n']\n", + "['muscular', 'O\\n']\n", + "['dystrophy', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Emery', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Dreifuss', 'O\\n']\n", + "['muscular', 'O\\n']\n", + "['dystrophy', 'O\\n']\n", + "['(', 'O\\n']\n", + "['EMD', 'O\\n']\n", + "[')', 'O\\n']\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['condition', 'O\\n']\n", + "['characterized', 'O\\n']\n", + "['by', 'O\\n']\n", + "['the', 'O\\n']\n", + "['clinical', 'O\\n']\n", + "['triad', 'O\\n']\n", + "['of', 'O\\n']\n", + "['early', 'O\\n']\n", + "['-', 'O\\n']\n", + "['onset', 'O\\n']\n", + "['contractures', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['progressive', 'O\\n']\n", + "['weakness', 'O\\n']\n", + "['in', 'O\\n']\n", + "['humeroperoneal', 'O\\n']\n", + "['muscles', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['cardiomyopathy', 'O\\n']\n", + "['with', 'O\\n']\n", + "['conduction', 'O\\n']\n", + "['block', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['was', 'O\\n']\n", + "['described', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['first', 'O\\n']\n", + "['time', 'O\\n']\n", + "['as', 'O\\n']\n", + "['an', 'O\\n']\n", + "['X', 'O\\n']\n", + "['-', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['muscular', 'O\\n']\n", + "['dystrophy', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['but', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['dominant', 'O\\n']\n", + "['and', 'O\\n']\n", + "['autosomal', 'O\\n']\n", + "['recessive', 'O\\n']\n", 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\\n']\n", + "['To', 'O\\n']\n", + "['date', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['seven', 'O\\n']\n", + "['different', 'O\\n']\n", + "['MATN3', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['identified', 'O\\n']\n", + "[';', 'O\\n']\n", + "['all', 'O\\n']\n", + "['are', 'O\\n']\n", + "['located', 'O\\n']\n", + "['within', 'O\\n']\n", + "['the', 'O\\n']\n", + "['beta', 'O\\n']\n", + "['-', 'O\\n']\n", + "['sheet', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['von', 'O\\n']\n", + "['Willebrand', 'O\\n']\n", + "['factor', 'O\\n']\n", + "['type', 'O\\n']\n", + "['A', 'O\\n']\n", + "['(', 'O\\n']\n", + "['vWFA', 'O\\n']\n", + "[')', 'O\\n']\n", + "['domain', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['is', 'O\\n']\n", + "['encoded', 'O\\n']\n", + "['by', 'O\\n']\n", + "['exon', 'O\\n']\n", + "['2', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', 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"['confidence', 'O\\n']\n", + "['interval', 'O\\n']\n", + "['1.13', 'O\\n']\n", + "['-', 'O\\n']\n", + "['1.27', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['p', 'O\\n']\n", + "['=', 'O\\n']\n", + "['2.86', 'O\\n']\n", + "['x', 'O\\n']\n", + "['10(-9', 'O\\n']\n", + "[')', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['HIVEP1', 'B-Gene\\n']\n", + "['codes', 'O\\n']\n", + "['for', 'O\\n']\n", + "['a', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['that', 'O\\n']\n", + "['participates', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['transcriptional', 'O\\n']\n", + "['regulation', 'O\\n']\n", + "['of', 'O\\n']\n", + "['inflammatory', 'O\\n']\n", + "['target', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['by', 'O\\n']\n", + "['binding', 'O\\n']\n", + "['specific', 'O\\n']\n", + "['DNA', 'O\\n']\n", + "['sequences', 'O\\n']\n", + "['in', 'O\\n']\n", + "['their', 'O\\n']\n", + "['promoter', 'O\\n']\n", + "['and', 'O\\n']\n", + "['enhancer', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['current', 'O\\n']\n", + "['results', 'O\\n']\n", + "['provide', 'O\\n']\n", + "['the', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['locus', 'O\\n']\n", + "['involved', 'O\\n']\n", + "['in', 'O\\n']\n", + "['VT', 'O\\n']\n", + "['susceptibility', 'O\\n']\n", + "['that', 'O\\n']\n", + "['lies', 'O\\n']\n", + "['outside', 'O\\n']\n", + "['the', 'O\\n']\n", + "['traditional', 'O\\n']\n", + "['coagulation', 'O\\n']\n", + "['/', 'O\\n']\n", + "['fibrinolysis', 'O\\n']\n", + "['pathway', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#18387595\n", + "\n", + "['On', 'O\\n']\n", + "['the', 'O\\n']\n", + "['replication', 'O\\n']\n", + "['of', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['associations', 'O\\n']\n", + "[':', 'O\\n']\n", + "['timing', 'O\\n']\n", + "['can', 'O\\n']\n", + "['be', 'O\\n']\n", + "['everything', 'O\\n']\n", + "['!', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['failure', 'O\\n']\n", + "['of', 'O\\n']\n", + "['researchers', 'O\\n']\n", + "['to', 'O\\n']\n", + "['replicate', 'O\\n']\n", + "['genetic', 'O\\n']\n", + "['-', 'O\\n']\n", + "['association', 'O\\n']\n", + "['findings', 'O\\n']\n", + "['is', 'O\\n']\n", + "['most', 'O\\n']\n", + "['commonly', 'O\\n']\n", + "['attributed', 'O\\n']\n", + "['to', 'O\\n']\n", + "['insufficient', 'O\\n']\n", + "['statistical', 'O\\n']\n", + "['power', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['population', 'O\\n']\n", + "['stratification', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['or', 'O\\n']\n", + "['various', 'O\\n']\n", + "['forms', 'O\\n']\n", + "['of', 'O\\n']\n", + "['between', 'O\\n']\n", + "['-', 'O\\n']\n", + "['study', 'O\\n']\n", + "['heterogeneity', 'O\\n']\n", + "['or', 'O\\n']\n", + "['environmental', 'O\\n']\n", + "['influences.(1', 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\\n']\n", + "['We', 'O\\n']\n", + "['hypothesized', 'O\\n']\n", + "['that', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['acetylcholine', 'O\\n']\n", + "['receptor', 'O\\n']\n", + "['-', 'O\\n']\n", + "['related', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['might', 'O\\n']\n", + "['also', 'O\\n']\n", + "['result', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['MPS', 'O\\n']\n", + "['/', 'O\\n']\n", + "['fetal', 'O\\n']\n", + "['akinesia', 'O\\n']\n", + "['phenotype', 'O\\n']\n", + "['and', 'O\\n']\n", + "['so', 'O\\n']\n", + "['we', 'O\\n']\n", + "['analyzed', 'O\\n']\n", + "['15', 'O\\n']\n", + "['cases', 'O\\n']\n", + "['of', 'O\\n']\n", + "['lethal', 'O\\n']\n", + "['MPS', 'O\\n']\n", + "['/', 'O\\n']\n", + "['fetal', 'O\\n']\n", + "['akinesia', 'O\\n']\n", + "['without', 'O\\n']\n", + "['CHRNG', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['for', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['CHRNA1', 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\\n']\n", + "['One', 'O\\n']\n", + "['patient', 'O\\n']\n", + "['was', 'O\\n']\n", + "['homozygous', 'O\\n']\n", + "['for', 'O\\n']\n", + "['a', 'O\\n']\n", + "['TC-->CT', 'O\\n']\n", + "['dinucleotide', 'O\\n']\n", + "['exchange', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['predicting', 'O\\n']\n", + "['a', 'O\\n']\n", + "['truncated', 'O\\n']\n", + "['SR', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['Q119X', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['other', 'O\\n']\n", + "['patient', 'O\\n']\n", + "['was', 'O\\n']\n", + "['a', 'O\\n']\n", + "['compound', 'O\\n']\n", + "['heterozygote', 'O\\n']\n", + "['for', 'O\\n']\n", + "['a', 'O\\n']\n", + "['genomic', 'O\\n']\n", + "['5', 'O\\n']\n", + "['-', 'O\\n']\n", + "['bp', 'O\\n']\n", + "['deletion', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['1397', 'I-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['1401delAGAAC', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + 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"['motif', 'O\\n']\n", + "['in', 'O\\n']\n", + "['this', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['resulting', 'O\\n']\n", + "['in', 'O\\n']\n", + "['WS', 'O\\n']\n", + "['and', 'O\\n']\n", + "['one', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['few', 'O\\n']\n", + "['examples', 'O\\n']\n", + "['of', 'O\\n']\n", + "['a', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['homeodomain', 'O\\n']\n", + "['of', 'O\\n']\n", + "['any', 'O\\n']\n", + "['protein', 'O\\n']\n", + "['that', 'O\\n']\n", + "['results', 'O\\n']\n", + "['in', 'O\\n']\n", + "['human', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#17436254\n", + "\n", + "['Mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['TCF4', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['encoding', 'O\\n']\n", + "['a', 'O\\n']\n", + "['class', 'O\\n']\n", + "['I', 'O\\n']\n", + "['basic', 'O\\n']\n", + 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+ "['in', 'O\\n']\n", + "['297', 'O\\n']\n", + "['individuals', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['to', 'O\\n']\n", + "['explore', 'O\\n']\n", + "['population', 'O\\n']\n", + "['structure', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Europeans', 'O\\n']\n", + "['of', 'O\\n']\n", + "['known', 'O\\n']\n", + "['and', 'O\\n']\n", + "['unknown', 'O\\n']\n", + "['ancestry', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['results', 'O\\n']\n", + "['reveal', 'O\\n']\n", + "['the', 'O\\n']\n", + "['presence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['several', 'O\\n']\n", + "['significant', 'O\\n']\n", + "['axes', 'O\\n']\n", + "['of', 'O\\n']\n", + "['stratification', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['most', 'O\\n']\n", + "['prominently', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['northern', 'O\\n']\n", + "['-', 'O\\n']\n", + "['southeastern', 'O\\n']\n", + "['trend', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['but', 'O\\n']\n", + "['also', 'O\\n']\n", + "['along', 'O\\n']\n", + "['an', 'O\\n']\n", + "['east', 'O\\n']\n", + "['-', 'O\\n']\n", + "['west', 'O\\n']\n", + "['axis', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['also', 'O\\n']\n", + "['demonstrate', 'O\\n']\n", + "['the', 'O\\n']\n", + "['selection', 'O\\n']\n", + "['and', 'O\\n']\n", + "['application', 'O\\n']\n", + "['of', 'O\\n']\n", + "['EuroAIMs', 'O\\n']\n", + "['(', 'O\\n']\n", + "['European', 'O\\n']\n", + "['ancestry', 'O\\n']\n", + "['informative', 'O\\n']\n", + "['markers', 'O\\n']\n", + "[')', 'O\\n']\n", + "['for', 'O\\n']\n", + "['ancestry', 'O\\n']\n", + "['estimation', 'O\\n']\n", + "['and', 'O\\n']\n", + "['correction', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['Coriell', 'O\\n']\n", + "['Caucasian', 'O\\n']\n", + "['and', 'O\\n']\n", + "['CEPH', 'O\\n']\n", + "['(', 'O\\n']\n", + "['Centre', 'O\\n']\n", + "[\"d'Etude\", 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\\n']\n", + "['We', 'O\\n']\n", + "['performed', 'O\\n']\n", + "['variation', 'O\\n']\n", + "['screening', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['CD36', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['and', 'O\\n']\n", + "['examined', 'O\\n']\n", + "['the', 'O\\n']\n", + "['possible', 'O\\n']\n", + "['association', 'O\\n']\n", + "['between', 'O\\n']\n", + "['CD36', 'B-Gene\\n']\n", + "['polymorphisms', 'O\\n']\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['severity', 'O\\n']\n", + "['of', 'O\\n']\n", + "['malaria', 'O\\n']\n", + "['in', 'O\\n']\n", + "['475', 'O\\n']\n", + "['adult', 'O\\n']\n", + "['Thai', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['P.', 'O\\n']\n", + "['falciparum', 'O\\n']\n", + "['malaria', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Accordingly', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['nine', 'O\\n']\n", + "['CD36', 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', ' \\n']\n", + "['Our', 'O\\n']\n", + "['hybrid', 'O\\n']\n", + "['panel', 'O\\n']\n", + "['localizes', 'O\\n']\n", + "['these', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['on', 'O\\n']\n", + "['either', 'O\\n']\n", + "['side', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['centromere', 'O\\n']\n", + "['on', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['11', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['closest', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['flanking', 'O\\n']\n", + "['the', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['are', 'O\\n']\n", + "['at', 'O\\n']\n", + "['D11S986', 'O\\n']\n", + "['in', 'O\\n']\n", + "['band', 'O\\n']\n", + "['p12', 'O\\n']\n", + "['-', 'O\\n']\n", + "['11.22', 'O\\n']\n", + "['on', 'O\\n']\n", + "['the', 'O\\n']\n", + "['short', 'O\\n']\n", + "['arm', 'O\\n']\n", + "['and', 'O\\n']\n", + "['at', 'O\\n']\n", + "['D11S480', 'O\\n']\n", + "['in', 'O\\n']\n", + "['band', 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"#7599639\n", + "\n", + "['Novel', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['cys152', 'I-SNP\\n']\n", + "['>', 'I-SNP\\n']\n", + "['arg', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['missense', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['an', 'O\\n']\n", + "['Arab', 'O\\n']\n", + "['patient', 'O\\n']\n", + "['with', 'O\\n']\n", + "['Canavan', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#1729895\n", + "\n", + "['Decreased', 'O\\n']\n", + "['fecundability', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Hutterite', 'O\\n']\n", + "['couples', 'O\\n']\n", + "['sharing', 'O\\n']\n", + "['HLA', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['DR', 'I-Gene\\n']\n", + "['.', 'I-Gene\\n']\n", + "[' ', ' \\n']\n", + "['To', 'O\\n']\n", + "['study', 'O\\n']\n", + "['the', 'O\\n']\n", + "['effects', 'O\\n']\n", + "['of', 'O\\n']\n", + "['parental', 'O\\n']\n", + "['HLA', 'B-Gene\\n']\n", + "['sharing', 'O\\n']\n", + "['on', 'O\\n']\n", + "['pregnancy', 'O\\n']\n", + "['outcome', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['initiated', 'O\\n']\n", + "['population', 'O\\n']\n", + "['-', 'O\\n']\n", + "['based', 'O\\n']\n", + "['studies', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['Hutterites', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['reported', 'O\\n']\n", + "['longer', 'O\\n']\n", + "['intervals', 'O\\n']\n", + "['from', 'O\\n']\n", + "['marriage', 'O\\n']\n", + "['to', 'O\\n']\n", + "['each', 'O\\n']\n", + "['birth', 'O\\n']\n", + "['among', 'O\\n']\n", + "['couples', 'O\\n']\n", + "['sharing', 'O\\n']\n", + "['HLA', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['particularly', 'O\\n']\n", + "['HLA', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['DR', 'I-Gene\\n']\n", + "['.', 'I-Gene\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['the', 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"['interval', 'O\\n']\n", + "['lengths', 'O\\n']\n", + "['among', 'O\\n']\n", + "['Hutterite', 'O\\n']\n", + "['couples', 'O\\n']\n", + "['sharing', 'O\\n']\n", + "['HLA', 'B-Gene\\n']\n", + "['were', 'O\\n']\n", + "['predominantly', 'O\\n']\n", + "['due', 'O\\n']\n", + "['to', 'O\\n']\n", + "['longer', 'O\\n']\n", + "['intervals', 'O\\n']\n", + "['until', 'O\\n']\n", + "['a', 'O\\n']\n", + "['clinical', 'O\\n']\n", + "['pregnancy', 'O\\n']\n", + "['among', 'O\\n']\n", + "['couples', 'O\\n']\n", + "['sharing', 'O\\n']\n", + "['HLA', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['DR', 'I-Gene\\n']\n", + "['and', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['to', 'O\\n']\n", + "['a', 'O\\n']\n", + "['lesser', 'O\\n']\n", + "['degree', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['were', 'O\\n']\n", + "['due', 'O\\n']\n", + "['to', 'O\\n']\n", + "['increased', 'O\\n']\n", + "['fetal', 'O\\n']\n", + "['loss', 'O\\n']\n", + "['rates', 'O\\n']\n", + "['among', 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\\n']\n", + "['We', 'O\\n']\n", + "['have', 'O\\n']\n", + "['studied', 'O\\n']\n", + "['the', 'O\\n']\n", + "['prevalence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['SLC6A8', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['panel', 'O\\n']\n", + "['of', 'O\\n']\n", + "['290', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['nonsyndromic', 'O\\n']\n", + "['XLMR', 'O\\n']\n", + "['archived', 'O\\n']\n", + "['by', 'O\\n']\n", + "['the', 'O\\n']\n", + "['European', 'O\\n']\n", + "['XLMR', 'O\\n']\n", + "['Consortium', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['full', 'O\\n']\n", + "['-', 'O\\n']\n", + "['length', 'O\\n']\n", + "['open', 'O\\n']\n", + "['reading', 'O\\n']\n", + "['frame', 'O\\n']\n", + "['and', 'O\\n']\n", + "['splice', 'O\\n']\n", + "['sites', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['SLC6A8', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['were', 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"['mutation', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['additional', 'O\\n']\n", + "['material', 'O\\n']\n", + "['was', 'O\\n']\n", + "['available', 'O\\n']\n", + "['to', 'O\\n']\n", + "['biochemically', 'O\\n']\n", + "['prove', 'O\\n']\n", + "['(', 'O\\n']\n", + "['i.e.', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['by', 'O\\n']\n", + "['increased', 'O\\n']\n", + "['urinary', 'O\\n']\n", + "['creatine', 'O\\n']\n", + "[':', 'O\\n']\n", + "['creatinine', 'O\\n']\n", + "['ratio', 'O\\n']\n", + "[')', 'O\\n']\n", + "['pathogenicity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['addition', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['found', 'O\\n']\n", + "['nine', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['polymorphisms', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['IVS1', 'I-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['26G-->A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS7', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['37G-->A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS7', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['87A-->G', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS7', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['35G-->A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS12', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['3C-->T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS2', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['88G-->C', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS9', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['36G-->A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS12', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['82G-->C', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['and', 'O\\n']\n", + "['p.', 'B-SNP\\n']\n", + "['Y498', 'I-SNP\\n']\n", + "[')', 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"Komma Detected\n", + ",,O\n", + "\n", + "['one', 'O\\n']\n", + "['translational', 'O\\n']\n", + "['silent', 'O\\n']\n", + "['variant', 'O\\n']\n", + "['(', 'O\\n']\n", + "['p.', 'O\\n']\n", + "['L472', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['10', 'O\\n']\n", + "['intervening', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['or', 'O\\n']\n", + "['untranslated', 'O\\n']\n", + "['region', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['IVS6', 'I-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['9C-->T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS7', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['151_152delGA', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS7', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['99C-->A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS8', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['35G-->A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS8', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['28C-->T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS10', 'B-SNP\\n']\n", + "['-', 'I-SNP\\n']\n", + "['18C-->T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS11', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['21G-->A', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS12', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['15C-->T', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['*', 'B-SNP\\n']\n", + "['207G-->C', 'I-SNP\\n']\n", + "Komma Detected\n", + ",,I-SNP\n", + "\n", + "['IVS12', 'B-SNP\\n']\n", + "['+', 'I-SNP\\n']\n", + "['32C-->A', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['were', 'O\\n']\n", + "['found', 'O\\n']\n", + "['only', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['XLMR', 'O\\n']\n", + "['panel', 'O\\n']\n", + "['but', 'O\\n']\n", + "['should', 'O\\n']\n", + "['be', 'O\\n']\n", + "['considered', 'O\\n']\n", + "['as', 'O\\n']\n", + "['unclassified', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['or', 'O\\n']\n", + "['as', 'O\\n']\n", + "['a', 'O\\n']\n", + "['polymorphism', 'O\\n']\n", + "['(', 'B-SNP\\n']\n", + "['p.', 'I-SNP\\n']\n", + "['M560V', 'I-SNP\\n']\n", + "[')', 'I-SNP\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Our', 'O\\n']\n", + "['data', 'O\\n']\n", + "['indicate', 'O\\n']\n", + "['that', 'O\\n']\n", + "['the', 'O\\n']\n", + "['frequency', 'O\\n']\n", + "['of', 'O\\n']\n", + "['SLC6A8', 'B-Gene\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['XLMR', 'O\\n']\n", + "['population', 'O\\n']\n", + "['is', 'O\\n']\n", + "['close', 'O\\n']\n", + "['to', 'O\\n']\n", + "['that', 'O\\n']\n", + "['of', 'O\\n']\n", + "['CGG', 'O\\n']\n", + "['expansions', 'O\\n']\n", + "['in', 'O\\n']\n", + "['FMR1', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['the', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['responsible', 'O\\n']\n", + "['for', 'O\\n']\n", + "['fragile', 'O\\n']\n", + "['-', 'O\\n']\n", + "['X', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#19191333\n", + "\n", + "['Functional', 'O\\n']\n", + "['characterization', 'O\\n']\n", + "['of', 'O\\n']\n", + "['ryanodine', 'B-Gene\\n']\n", + "['receptor', 'I-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['RYR1', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "['sequence', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['using', 'O\\n']\n", + "['a', 'O\\n']\n", + "['metabolic', 'O\\n']\n", + "['assay', 'O\\n']\n", + "['in', 'O\\n']\n", + "['immortalized', 'O\\n']\n", + "['B', 'O\\n']\n", + "['-', 'O\\n']\n", + "['lymphocytes', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Mutations', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['RYR1', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['are', 'O\\n']\n", + "['linked', 'O\\n']\n", + "['to', 'O\\n']\n", + "['malignant', 'O\\n']\n", + "['hyperthermia', 'O\\n']\n", + "['(', 'O\\n']\n", + "['MH', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['central', 'O\\n']\n", + "['core', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['and', 'O\\n']\n", + "['multi', 'O\\n']\n", + "['-', 'O\\n']\n", + "['minicore', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['screened', 'O\\n']\n", + "['by', 'O\\n']\n", + "['DHPLC', 'O\\n']\n", + "['the', 'O\\n']\n", + "['RYR1', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['in', 'O\\n']\n", + "['24', 'O\\n']\n", + "['subjects', 'O\\n']\n", + "['for', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['characterized', 'O\\n']\n", + "['functional', 'O\\n']\n", + "['alterations', 'O\\n']\n", + "['caused', 'O\\n']\n", + "['by', 'O\\n']\n", + "['some', 'O\\n']\n", + "['RYR1', 'B-Gene\\n']\n", + "['variants', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Three', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['sequence', 'O\\n']\n", + "['variants', 'O\\n']\n", + "['and', 'O\\n']\n", + "['twenty', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['polymorphisms', 'O\\n']\n", + "['were', 'O\\n']\n", + "['identified', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Immortalized', 'O\\n']\n", + "['lymphoblastoid', 'O\\n']\n", + "['cell', 'O\\n']\n", + "['lines', 'O\\n']\n", + "['from', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['RYR1', 'B-Gene\\n']\n", + "['variants', 'O\\n']\n", + "['and', 'O\\n']\n", + "['from', 'O\\n']\n", + "['controls', 'O\\n']\n", + "['were', 'O\\n']\n", + "['stimulated', 'O\\n']\n", + "['with', 'O\\n']\n", + "['4', 'O\\n']\n", + "['-', 'O\\n']\n", + "['chloro', 'O\\n']\n", + "['-', 'O\\n']\n", + "['m', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cresol', 'O\\n']\n", + "['(', 'O\\n']\n", + "['4', 'O\\n']\n", + "['-', 'O\\n']\n", + "['CmC', 'O\\n']\n", + "[')', 'O\\n']\n", + "['and', 'O\\n']\n", + "['the', 'O\\n']\n", + "['rate', 'O\\n']\n", + "['of', 'O\\n']\n", + "['extracellular', 'O\\n']\n", + "['acidification', 'O\\n']\n", + "['was', 'O\\n']\n", + "['recorded', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['demonstrate', 'O\\n']\n", + "['that', 'O\\n']\n", + "['the', 'O\\n']\n", + "['increased', 'O\\n']\n", + "['acidification', 'O\\n']\n", + "['rate', 'O\\n']\n", + "['of', 'O\\n']\n", + "['lymphoblastoid', 'O\\n']\n", + "['cells', 'O\\n']\n", + "['in', 'O\\n']\n", + "['response', 'O\\n']\n", + "['to', 'O\\n']\n", + "['4', 'O\\n']\n", + "['-', 'O\\n']\n", + "['CmC', 'O\\n']\n", + "['is', 'O\\n']\n", + "['mainly', 'O\\n']\n", + "['due', 'O\\n']\n", + "['to', 'O\\n']\n", + "['RYR1', 'B-Gene\\n']\n", + "['activation', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Cells', 'O\\n']\n", + "['expressing', 'O\\n']\n", + "['RYR1', 'B-Gene\\n']\n", + 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",,O\n", + "\n", + "['therefore', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['accelerate', 'O\\n']\n", + "['the', 'O\\n']\n", + "['cloning', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['this', 'O\\n']\n", + "['study', 'O\\n']\n", + "['we', 'O\\n']\n", + "['present', 'O\\n']\n", + "['the', 'O\\n']\n", + "['identification', 'O\\n']\n", + "['and', 'O\\n']\n", + "['characterization', 'O\\n']\n", + "['of', 'O\\n']\n", + "['nine', 'O\\n']\n", + "['new', 'O\\n']\n", + "['polymorphic', 'O\\n']\n", + "['DNA', 'O\\n']\n", + "['markers', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['including', 'O\\n']\n", + "['three', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['which', 'O\\n']\n", + "['detect', 'O\\n']\n", + "['highly', 'O\\n']\n", + "['informative', 'O\\n']\n", + "['multiallelic', 'O\\n']\n", + "['VNTR', 'O\\n']\n", + "['-', 'O\\n']\n", + "['like', 'O\\n']\n", + "['polymorphisms', 'O\\n']\n", + "['with', 'O\\n']\n", + "['PIC', 'O\\n']\n", + "['values', 'O\\n']\n", + "['of', 'O\\n']\n", + "['up', 'O\\n']\n", + "['to', 'O\\n']\n", + "['.84', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['These', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['have', 'O\\n']\n", + "['been', 'O\\n']\n", + "['isolated', 'O\\n']\n", + "['from', 'O\\n']\n", + "['a', 'O\\n']\n", + "['cloned', 'O\\n']\n", + "['region', 'O\\n']\n", + "['of', 'O\\n']\n", + "['DNA', 'O\\n']\n", + "['which', 'O\\n']\n", + "['has', 'O\\n']\n", + "['been', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['mapped', 'O\\n']\n", + "['approximately', 'O\\n']\n", + "Komma Detected\n", + "1,000,O\n", + "\n", + "['kb', 'O\\n']\n", + "['from', 'O\\n']\n", + "['the', 'O\\n']\n", + "['4p', 'O\\n']\n", + "['telomere', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#20127982\n", + "\n", + "['Disruption', 'O\\n']\n", + "['of', 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"['disorders', 'O\\n']\n", + "['with', 'O\\n']\n", + "['involvement', 'O\\n']\n", + "['of', 'O\\n']\n", + "['upper', 'O\\n']\n", + "['and/or', 'O\\n']\n", + "['lower', 'O\\n']\n", + "['motor', 'O\\n']\n", + "['neurons', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['such', 'O\\n']\n", + "['as', 'O\\n']\n", + "['amyotrophic', 'O\\n']\n", + "['lateral', 'O\\n']\n", + "['sclerosis', 'O\\n']\n", + "['(', 'O\\n']\n", + "['ALS', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['spinal', 'O\\n']\n", + "['muscular', 'O\\n']\n", + "['atrophy', 'O\\n']\n", + "['(', 'O\\n']\n", + "['SMA', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['progressive', 'O\\n']\n", + "['bulbar', 'O\\n']\n", + "['palsy', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['primary', 'O\\n']\n", + "['lateral', 'O\\n']\n", + "['sclerosis', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Recently', 'O\\n']\n", + 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"['with', 'O\\n']\n", + "['a', 'O\\n']\n", + "['dense', 'O\\n']\n", + "['mapped', 'O\\n']\n", + "['resource', 'O\\n']\n", + "['of', 'O\\n']\n", + "['BACs', 'O\\n']\n", + "['and', 'O\\n']\n", + "['large', 'O\\n']\n", + "['-', 'O\\n']\n", + "['scale', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "['has', 'O\\n']\n", + "['led', 'O\\n']\n", + "['directly', 'O\\n']\n", + "['to', 'O\\n']\n", + "['the', 'O\\n']\n", + "['definition', 'O\\n']\n", + "['of', 'O\\n']\n", + "['PKCepsilon', 'B-Gene\\n']\n", + "['as', 'O\\n']\n", + "['a', 'O\\n']\n", + "['previously', 'O\\n']\n", + "['unmapped', 'O\\n']\n", + "['candidate', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['involved', 'O\\n']\n", + "['in', 'O\\n']\n", + "['thyroid', 'O\\n']\n", + "['tumorigenesis', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "Document Tag detected\n", + "#14695532\n", + "\n", + "['Twenty', 'O\\n']\n", + "['-', 'O\\n']\n", + "['two', 'O\\n']\n", + "['novel', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['in', 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+ "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Using', 'O\\n']\n", + "['PCR', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['amplified', 'O\\n']\n", + "['regions', 'O\\n']\n", + "['encompassing', 'O\\n']\n", + "['(', 'O\\n']\n", + "['A)8', 'O\\n']\n", + "['and', 'O\\n']\n", + "['(', 'O\\n']\n", + "['C)8', 'O\\n']\n", + "['microsatellite', 'O\\n']\n", + "['tracts', 'O\\n']\n", + "['within', 'O\\n']\n", + "['hMSH3', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + "['hMSH6', 'B-Gene\\n']\n", + "['from', 'O\\n']\n", + "['31', 'O\\n']\n", + "['RER+', 'O\\n']\n", + "['sporadic', 'O\\n']\n", + "['colorectal', 'O\\n']\n", + "['tumors', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['8', 'O\\n']\n", + "['hereditary', 'O\\n']\n", + "['colon', 'O\\n']\n", + "['cancers', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['23', 'O\\n']\n", + "['RER+', 'O\\n']\n", + "['gastric', 'O\\n']\n", + "['carcinomas', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['32', 'O\\n']\n", + "['RER-', 'O\\n']\n", + "['gastric', 'O\\n']\n", + "['tumors', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Mutations', 'O\\n']\n", + "['were', 'O\\n']\n", + "['found', 'O\\n']\n", + "['in', 'O\\n']\n", + "['11', 'O\\n']\n", + "['(', 'O\\n']\n", + "['36', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "['of', 'O\\n']\n", + "['31', 'O\\n']\n", + "['sporadic', 'O\\n']\n", + "['colon', 'O\\n']\n", + "['carcinomas', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['4', 'O\\n']\n", + "['(', 'O\\n']\n", + "['50', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "['of', 'O\\n']\n", + "['8', 'O\\n']\n", + "['hereditary', 'O\\n']\n", + "['colorectal', 'O\\n']\n", + "['cancers', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['5', 'O\\n']\n", + "['(', 'O\\n']\n", + "['22', 'O\\n']\n", + "['%', 'O\\n']\n", + "[')', 'O\\n']\n", + "['of', 'O\\n']\n", + "['23', 'O\\n']\n", + 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+ "['those', 'O\\n']\n", + "['of', 'O\\n']\n", + "['others', 'O\\n']\n", + "['suggest', 'O\\n']\n", + "['that', 'O\\n']\n", + "['DNA', 'O\\n']\n", + "['mismatch', 'O\\n']\n", + "['repair', 'O\\n']\n", + "['genes', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['such', 'O\\n']\n", + "['as', 'O\\n']\n", + "['hMSH3', 'B-Gene\\n']\n", + "['and', 'O\\n']\n", + "['hMSH6', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['are', 'O\\n']\n", + "['targets', 'O\\n']\n", + "['for', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mutagenic', 'O\\n']\n", + "['activity', 'O\\n']\n", + "['of', 'O\\n']\n", + "['upstream', 'O\\n']\n", + "['mismatch', 'O\\n']\n", + "['repair', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['and', 'O\\n']\n", + "['that', 'O\\n']\n", + "['this', 'O\\n']\n", + "['enhanced', 'O\\n']\n", + "['genomic', 'O\\n']\n", + "['instability', 'O\\n']\n", + "['may', 'O\\n']\n", + "['accelerate', 'O\\n']\n", + "['the', 'O\\n']\n", + 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",,O\n", + "\n", + "['and', 'O\\n']\n", + "['retinitis', 'O\\n']\n", + "['pigmentosa', 'O\\n']\n", + "['(', 'O\\n']\n", + "['RP', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['NR2E3', 'B-Gene\\n']\n", + "Komma Detected\n", + ",,I-Gene\n", + "\n", + "['also', 'O\\n']\n", + "['called', 'O\\n']\n", + "['photoreceptor', 'B-Gene\\n']\n", + "['-', 'I-Gene\\n']\n", + "['specific', 'I-Gene\\n']\n", + "['nuclear', 'I-Gene\\n']\n", + "['receptor', 'I-Gene\\n']\n", + "['(', 'B-Gene\\n']\n", + "['PNR', 'I-Gene\\n']\n", + "[')', 'I-Gene\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['is', 'O\\n']\n", + "['a', 'O\\n']\n", + "['transcription', 'O\\n']\n", + "['factor', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['nuclear', 'O\\n']\n", + "['hormone', 'O\\n']\n", + "['receptor', 'O\\n']\n", + "['superfamily', 'O\\n']\n", + "['whose', 'O\\n']\n", + "['expression', 'O\\n']\n", + "['is', 'O\\n']\n", + "['uniquely', 'O\\n']\n", + "['restricted', 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'O\\n']\n", + "['state', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['recessively', 'O\\n']\n", + "['inherited', 'O\\n']\n", + "['enhanced', 'O\\n']\n", + "['S', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cone', 'O\\n']\n", + "['sensitivity', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['(', 'O\\n']\n", + "['ESCS', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['Goldmann', 'O\\n']\n", + "['-', 'O\\n']\n", + "['Favre', 'O\\n']\n", + "['syndrome', 'O\\n']\n", + "['(', 'O\\n']\n", + "['GFS', 'O\\n']\n", + "[')', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['clumped', 'O\\n']\n", + "['pigmentary', 'O\\n']\n", + "['retinal', 'O\\n']\n", + "['degeneration', 'O\\n']\n", + "['(', 'O\\n']\n", + "['CPRD', 'O\\n']\n", + "[')', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['clinical', 'O\\n']\n", + "['phenotype', 'O\\n']\n", + "['common', 'O\\n']\n", + "['to', 'O\\n']\n", + "['all', 'O\\n']\n", + "['these', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['is', 'O\\n']\n", + "['night', 'O\\n']\n", + "['blindness', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['rudimental', 'O\\n']\n", + "['or', 'O\\n']\n", + "['absent', 'O\\n']\n", + "['rod', 'O\\n']\n", + "['function', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['and', 'O\\n']\n", + "['hyperfunction', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['\"', 'O\\n']\n", + "['blue', 'O\\n']\n", + "['\"', 'O\\n']\n", + "['S', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cones', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['A', 'O\\n']\n", + "['single', 'O\\n']\n", + "['p.', 'B-SNP\\n']\n", + "['G56R', 'I-SNP\\n']\n", + "['mutation', 'O\\n']\n", + "['is', 'O\\n']\n", + "['inherited', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['dominant', 'O\\n']\n", + "['manner', 'O\\n']\n", + "['and', 'O\\n']\n", + "['causes', 'O\\n']\n", + "['retinitis', 'O\\n']\n", + 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"['is', 'O\\n']\n", + "['distal', 'O\\n']\n", + "['to', 'O\\n']\n", + "['D9S149', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Second', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['found', 'O\\n']\n", + "['LOH', 'O\\n']\n", + "['more', 'O\\n']\n", + "['frequently', 'O\\n']\n", + "['on', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['16p13', 'O\\n']\n", + "['than', 'O\\n']\n", + "['on', 'O\\n']\n", + "['9q34', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['28', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['angiomyolipomas', 'O\\n']\n", + "['or', 'O\\n']\n", + "['rhabdomyomas', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['16p13', 'O\\n']\n", + "['LOH', 'O\\n']\n", + "['was', 'O\\n']\n", + "['detected', 'O\\n']\n", + "['in', 'O\\n']\n", + "['lesions', 'O\\n']\n", + "['from', 'O\\n']\n", + "['12', 'O\\n']\n", + "['(', 'O\\n']\n", + "['57', 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"['with', 'O\\n']\n", + "['muscular', 'O\\n']\n", + "['dystrophy', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['exception', 'O\\n']\n", + "['that', 'O\\n']\n", + "['rimmed', 'O\\n']\n", + "['vacuoles', 'O\\n']\n", + "['are', 'O\\n']\n", + "['a', 'O\\n']\n", + "['rather', 'O\\n']\n", + "['common', 'O\\n']\n", + "['finding', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['We', 'O\\n']\n", + "['performed', 'O\\n']\n", + "['a', 'O\\n']\n", + "['genomewide', 'O\\n']\n", + "['scan', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['with', 'O\\n']\n", + "['279', 'O\\n']\n", + "['highly', 'O\\n']\n", + "['polymorphic', 'O\\n']\n", + "['Cooperative', 'O\\n']\n", + "['Human', 'O\\n']\n", + "['Linkage', 'O\\n']\n", + "['Center', 'O\\n']\n", + "['microsatellite', 'O\\n']\n", + "['markers', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['on', 'O\\n']\n", + "['11', 'O\\n']\n", + "['affected', 'O\\n']\n", + "['individuals', 'O\\n']\n", + "['of', 'O\\n']\n", + "['one', 'O\\n']\n", + "['Finnish', 'O\\n']\n", + "['TMD', 'O\\n']\n", + "['family', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['The', 'O\\n']\n", + "['only', 'O\\n']\n", + "['evidence', 'O\\n']\n", + "['for', 'O\\n']\n", + "['linkage', 'O\\n']\n", + "['emerged', 'O\\n']\n", + "['from', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['in', 'O\\n']\n", + "['a', 'O\\n']\n", + "['43', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cM', 'O\\n']\n", + "['region', 'O\\n']\n", + "['on', 'O\\n']\n", + "['chromosome', 'O\\n']\n", + "['2q', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['In', 'O\\n']\n", + "['further', 'O\\n']\n", + "['linkage', 'O\\n']\n", + "['analyses', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['which', 'O\\n']\n", + "['included', 'O\\n']\n", + "['three', 'O\\n']\n", + "['other', 'O\\n']\n", + "['Finnish', 'O\\n']\n", + "['TMD', 'O\\n']\n", + "['families', 'O\\n']\n", + "['and', 'O\\n']\n", + "['which', 'O\\n']\n", + "['used', 'O\\n']\n", + "['a', 'O\\n']\n", + "['denser', 'O\\n']\n", + "['set', 'O\\n']\n", + "['of', 'O\\n']\n", + "['markers', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['a', 'O\\n']\n", + "['maximum', 'O\\n']\n", + "['two', 'O\\n']\n", + "['-', 'O\\n']\n", + "['point', 'O\\n']\n", + "['LOD', 'O\\n']\n", + "['score', 'O\\n']\n", + "['of', 'O\\n']\n", + "['10.14', 'O\\n']\n", + "['(', 'O\\n']\n", + "['recombination', 'O\\n']\n", + "['fraction', 'O\\n']\n", + "['of', 'O\\n']\n", + "['.05', 'O\\n']\n", + "[')', 'O\\n']\n", + "['was', 'O\\n']\n", + "['obtained', 'O\\n']\n", + "['with', 'O\\n']\n", + "['marker', 'O\\n']\n", + "['D2S364', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Multipoint', 'O\\n']\n", + "['likelihood', 'O\\n']\n", + "['calculations', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['combined', 'O\\n']\n", + "['with', 'O\\n']\n", + "['the', 'O\\n']\n", + "['haplotype', 'O\\n']\n", + "['and', 'O\\n']\n", + "['recombination', 'O\\n']\n", + "['analyses', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['restricted', 'O\\n']\n", + "['the', 'O\\n']\n", + "['TMD', 'O\\n']\n", + "['locus', 'O\\n']\n", + "['to', 'O\\n']\n", + "['an', 'O\\n']\n", + "['approximately', 'O\\n']\n", + "['1', 'O\\n']\n", + "['-', 'O\\n']\n", + "['cM', 'O\\n']\n", + "['critical', 'O\\n']\n", + "['chromosomal', 'O\\n']\n", + "['region', 'O\\n']\n", + "['without', 'O\\n']\n", + "['any', 'O\\n']\n", + "['evidence', 'O\\n']\n", + "['of', 'O\\n']\n", + "['heterogeneity', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Since', 'O\\n']\n", + "['all', 'O\\n']\n", + "['the', 'O\\n']\n", + "['affecteds', 'O\\n']\n", + "['share', 'O\\n']\n", + "['one', 'O\\n']\n", + "['core', 'O\\n']\n", + "['haplotype', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['the', 'O\\n']\n", + "['dominance', 'O\\n']\n", + "['of', 'O\\n']\n", + "['one', 'O\\n']\n", + "['ancestor', 'O\\n']\n", + "['mutation', 'O\\n']\n", + 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"['and', 'O\\n']\n", + "['children', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Using', 'O\\n']\n", + "['homozygosity', 'O\\n']\n", + "['mapping', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['narrowed', 'O\\n']\n", + "['down', 'O\\n']\n", + "['the', 'O\\n']\n", + "['critical', 'O\\n']\n", + "['region', 'O\\n']\n", + "['of', 'O\\n']\n", + "['the', 'O\\n']\n", + "['LCA3', 'B-Gene\\n']\n", + "['locus', 'O\\n']\n", + "['to', 'O\\n']\n", + "['3.8', 'O\\n']\n", + "['Mb', 'O\\n']\n", + "['between', 'O\\n']\n", + "['markers', 'O\\n']\n", + "['D14S1022', 'O\\n']\n", + "['and', 'O\\n']\n", + "['D14S1005', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['By', 'O\\n']\n", + "['direct', 'O\\n']\n", + "['Sanger', 'O\\n']\n", + "['sequencing', 'O\\n']\n", + "['of', 'O\\n']\n", + "['all', 'O\\n']\n", + "['genes', 'O\\n']\n", + "['within', 'O\\n']\n", + "['this', 'O\\n']\n", + "['region', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['found', 'O\\n']\n", + "['a', 'O\\n']\n", + "['homozygous', 'O\\n']\n", + "['nonsense', 'O\\n']\n", + "['mutation', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['SPATA7', 'B-Gene\\n']\n", + "['gene', 'O\\n']\n", + "['in', 'O\\n']\n", + "['Saudi', 'O\\n']\n", + "['Arabian', 'O\\n']\n", + "['family', 'O\\n']\n", + "['KKESH-060', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Three', 'O\\n']\n", + "['other', 'O\\n']\n", + "['loss', 'O\\n']\n", + "['-', 'O\\n']\n", + "['of', 'O\\n']\n", + "['-', 'O\\n']\n", + "['function', 'O\\n']\n", + "['mutations', 'O\\n']\n", + "['were', 'O\\n']\n", + "['subsequently', 'O\\n']\n", + "['discovered', 'O\\n']\n", + "['in', 'O\\n']\n", + "['patients', 'O\\n']\n", + "['with', 'O\\n']\n", + "['LCA', 'O\\n']\n", + "['or', 'O\\n']\n", + "['juvenile', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['from', 'O\\n']\n", + "['distinct', 'O\\n']\n", + "['populations', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Furthermore', 'O\\n']\n", + "Komma Detected\n", + ",,O\n", + "\n", + "['we', 'O\\n']\n", + "['determined', 'O\\n']\n", + "['that', 'O\\n']\n", + "['Spata7', 'B-Gene\\n']\n", + "['is', 'O\\n']\n", + "['expressed', 'O\\n']\n", + "['in', 'O\\n']\n", + "['the', 'O\\n']\n", + "['mature', 'O\\n']\n", + "['mouse', 'O\\n']\n", + "['retina', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n", + "['Our', 'O\\n']\n", + "['findings', 'O\\n']\n", + "['reveal', 'O\\n']\n", + "['another', 'O\\n']\n", + "['human', 'O\\n']\n", + "['visual', 'O\\n']\n", + "['-', 'O\\n']\n", + "['disease', 'O\\n']\n", + "['gene', 'O\\n']\n", + "['that', 'O\\n']\n", + "['causes', 'O\\n']\n", + "['LCA', 'O\\n']\n", + "['and', 'O\\n']\n", + "['juvenile', 'O\\n']\n", + "['RP', 'O\\n']\n", + "['.', 'O\\n']\n", + "[' ', ' \\n']\n" + ] + } + ], + "source": [ + "import re\n", + "pattern = r\"#\\d+\"\n", + "with open(\"/mnt/c/Users/MAIERS3/OneDrive - ZF Friedrichshafen AG/Documents/DHBW/DHBW Master/Advanced Machine Learning und XAI/NER_Abgabe/seth/SETH-train.iob\",\"r\") as fin:\n", + " lines = fin.readlines()\n", + "document = {\"id\":None,\n", + " \"tokens\":[],\n", + " \"labels\":[]\n", + " }\n", + "documents = []\n", + "tokenSet = {}\n", + "labelSet = {}\n", + "\n", + "def addToTokenSet(token:str)->None:\n", + " if token in tokenSet.keys():\n", + " tokenSet[token]+=1\n", + " else:\n", + " tokenSet[token] = 1\n", + "\n", + "def addToLabelSet(label:str)->None:\n", + " if label in labelSet.keys():\n", + " labelSet[label]+=1\n", + " else:\n", + " labelSet[label] = 1\n", + "\n", + "for idx,line in enumerate(lines):\n", + " match = re.match(pattern, line)\n", + " #Überspringe erste Zeile weil das ein Header ist\n", + " if idx == 0:\n", + " continue\n", + " # Here ist die Dokumented ID\n", + " if match:\n", + " print(\"Document Tag detected\")\n", + " print(line)\n", + " if document[\"id\"] != None:\n", + " # Speichere altes Dokument bevor ein neues angelegt wird\n", + " documents.append(document)\n", + " else:\n", + " #Initialisiere neues DOkument\n", + " document = {\"id\":int(line[1:]), # Speichere nur die Nummer ohne die Raute\n", + " \"tokens\":[],\n", + " \"labels\":[]\n", + " }\n", + " # Hier detectieren wir ein Komma weil sonst das parsen mit einem CSV Konverter wie in Pandas fehl schlägt\n", + " elif len(line.split(\",\")) >2:\n", + " print(\"Komma Detected\")\n", + " print(line)\n", + " document[\"tokens\"].append(line[0])\n", + " document[\"labels\"].append(line[2].split(\"\\n\")[0])\n", + " addToTokenSet(\",\")\n", + " addToLabelSet(line[2].split(\"\\n\")[0])\n", + " # Sonst gehen wir einfach vom standard aus Word sowie Tag\n", + " else:\n", + " print(line.split(\",\"))\n", + " word_tag = line.split(\",\")\n", + " document[\"tokens\"].append(word_tag[0])\n", + " document[\"labels\"].append(word_tag[1].split(\"\\n\")[0])\n", + " addToTokenSet(word_tag[0])\n", + " addToLabelSet(word_tag[1].split(\"\\n\")[0])\n" + ] + }, + { + "cell_type": "code", + "execution_count": 21, + "metadata": {}, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "{'O': 101406, 'B-Gene': 1930, ' ': 4007, 'B-SNP': 734, 'I-SNP': 1209, ',': 32, 'I-Gene': 1247, 'I': 460, '6': 6, '0': 16, '1': 10, '3': 6, '9': 6, '5': 6, 'o': 1, '2': 11, '7': 3, '4': 4, 'g': 1, 'M': 1, 'B-RS': 9}\n" + ] + } + ], + "source": [ + "print(labelSet)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": {}, + "outputs": [], + "source": [] + } + ], + "metadata": { + "kernelspec": { + "display_name": "myenv", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.10.14" + } + }, + "nbformat": 4, + "nbformat_minor": 2 +}