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 Nature genetics 17 건 
 [ 해외 논문 ] Genome - wide association meta - analysis highlights light - induced signaling as a driver for refractive error SCI SCIE 
 Tedja , Milly S . , Wojciechowski , Robert , Hysi , Pirro G . , Eriksson , Nicholas , Furlotte , Nicholas A . , Verhoeven , Virginie J . M . , Iglesias , Adriana I . , Meester - Smoor , Magda A . , Tompson , Stuart W . , Fan , Qiao , Khawaja , Anthony P . , Cheng , Ching - Yu , Hö , hn , René , , Yamashiro , Kenji , Wenocur , Adam , Grazal , Clare , Haller , Toomas , Metspalu , Andres , Wedenoja , Juho , Jonas , Jost B . , Wang , Ya Xing , Xie , Jing , Mitchell , Paul , Foster , Paul J . , Klein , Barbara E . K . , Klein , Ronald , Paterson , Andrew D . , Hosseini , S . Mohsen , Shah , Rupal L . , Williams , Cathy , Teo , Yik Ying , Tham , Yih Chung , Gupta , Preeti , Zhao , Wanting , Shi , Yuan , Saw , Woei - Yuh , Tai , E - Shyong , Sim , Xue Ling , Huffman , Jennifer E . , Polaš , ek , Ozren , Hayward , Caroline , Bencic , Goran , Rudan , Igor , Wilson , James F . , Joshi , Peter K . , Tsujikawa , Akitaka , Matsuda , Fumihiko , Whisenhunt , Kristina N . , Zeller , Tanja , van der Spek , Peter J . , Haak , Roxanna , Meijers - Heijboer , Hanne , van Leeuwe 
 Nature genetics v . 50 no . 6 , pp . 834 - 848 , 2018 , 1061 - 4036 , 
 [ 해외 논문 ] Frequent transmission of the Mycobacterium tuberculosis Beijing lineage and positive selection for EsxW Beijing variant in Vietnam SCI SCIE 
 Holt , Kathryn E ( Department of Biochemistry and Molecular Biology , Bio 21 Molecular Science and Biotechnology Institute , University of Melbourne , Parkville , Victoria 3010 , Australia ) , McAdam , Paul ( Department of Biochemistry and Molecular Biology , Bio 21 Molecular Science and Biotechnology Institute , University of Melbourne , Parkville , Victoria 3010 , Australia ) , Thai , Phan Vuong Khac ( Pham Ngoc Thach Hospital for Tuberculosis and Lung Disease , Ho Chi Minh City , District 5 , Viet Nam ) , Thuong , Nguyen Thuy Thuong ( Oxford University Clinical Research Unit , Ho Chi Minh City , District 5 , Viet Nam ) , Ha , Dang Thi Minh ( Pham Ngoc Thach Hospital for Tuberculosis and Lung Disease , Ho Chi Minh City , District 5 , Viet Nam ) , Lan , Nguyen Ngoc ( Pham Ngoc Thach Hospital for Tuberculosis and Lung Disease , Ho Chi Minh City , District 5 , Viet Nam ) , Lan , Nguyen Huu ( Pham Ngoc Thach Hospital for Tuberculosis and Lung Disease , Ho Chi Minh City , District 5 , Viet Nam ) , Nhu , Nguyen Thi Quynh ( Oxford University Clinical Research Unit , Ho Chi Minh City , District 5 , Viet Nam ) , Hai , Hoang Thanh ( Oxford University Clinical Research Unit , Ho Chi Minh City , District 5 , Viet Nam ) , Ha , Vu Thi Ngoc ( Oxford Univer ) , Thwaites , Guy , Edwards , David J , Nath , Artika P , Pham , Kym , Ascher , David B , Farrar , Jeremy , Khor , Chiea Chuen , Teo , Yik Ying , Inouye , Michael , Caws , Maxine , Dunstan , Sarah J 
 Nature genetics v . 50 no . 6 , pp . 849 - 856 , 2018 , 1061 - 4036 , 
 To examine transmission dynamics of Mtb isolated from TB patients in Ho Chi Minh City , Vietnam we sequenced whole genomes of 1 , 635 isolates and compared these with 3 , 144 isolates from elsewhere . The data reveal an underlying burden of disease caused by endemic Mtb Lineage 1 associated with activation of long - term latent infection , and a three - fold higher burden associated with more recently introduced Beijing lineage and Lineage 4 Mtb strains . We find that Beijing lineage Mtb is frequently transferred between Vietnam and other countries , and detect higher levels of transmission of Beijing lineage strains within this host population than endemic Lineage 1 Mtb . Screening for parallel evolution of Beijing lineage - associated SNPs in other Mtb lineages as a signal of positive selection , we identify a mutation in the ESX - 5 type VII secreted protein EsxW , which could potentially contribute to the enhanced transmission of Beijing lineage Mtb in Vietnamese and other host populations . 
 [ 해외 논문 ] A genome - wide cross trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases SCI SCIE 
 Zhu , Zhaozhong ( Program in Genetic Epidemiology and Statistical Genetics , Department of Epidemiology , Harvard T . H . Chan School of Public Health , Boston , Massachusetts , USA ) , Lee , Phil H . ( Center for Genomic Medicine , Massachusetts General Hospital and Harvard Medical School , Boston , Massachusetts , USA ) , Chaffin , Mark D . ( Medical and Population Genetics Program , Broad Institute of MIT and Harvard , Cambridge , Massachusetts , USA ) , Chung , Wonil ( Program in Genetic Epidemiology and Statistical Genetics , Department of Epidemiology , Harvard T . H . Chan School of Public Health , Boston , Massachusetts , USA ) , Loh , Po - Ru ( Program in Genetic Epidemiology and Statistical Genetics , Department of Epidemiology , Harvard T . H . Chan School of Public Health , Boston , Massachusetts , USA ) , Lu , Quan ( Program in Molecular and Integrative Physiological Sciences , Departments of Environmental Health and Genetics & Complex Diseases , Harvard T . H . Chan School of Public Health , Boston , Massachusetts , USA ) , Christiani , David C . ( Department of Environmental Health , Harvard T . H . Chan School of Public Health , Boston , Massachuset ) , Liang , Liming 
 Nature genetics v . 50 no . 6 , pp . 857 - 864 , 2018 , 1061 - 4036 , 
 [ 해외 논문 ] Locus - specific control of the de novo DNA methylation pathway in Arabidopsis by the CLASSY family SCI SCIE 
 Zhou , Ming ( Plant Molecular and Cellular Biology Laboratory , Salk Institute for Biological Studies , La Jolla , CA , USA . ) , Palanca , Ana Marie S . ( Plant Molecular and Cellular Biology Laboratory , Salk Institute for Biological Studies , La Jolla , CA , USA . ) , Law , Julie A . ( Plant Molecular and Cellular Biology Laboratory , Salk Institute for Biological Studies , La Jolla , CA , USA . ) 
 Nature genetics v . 50 no . 6 , pp . 865 - 873 , 2018 , 1061 - 4036 , 
 DNA methylation is essential for gene regulation , transposon silencing , and imprinting . Although the generation of specific DNA methylation patterns is critical for these processes , how methylation is regulated at individual loci remains unclear . Here we show that a family of four putative chromatin remodeling factors , CLASSY ( CLSY ) 1 – 4 , are required for both locus - specific and global regulation of DNA methylation in Arabidopsis . Mechanistically , these factors act in connection with RNA polymerase - IV ( Pol - IV ) to control the production of 24 - nucleotide small interfering RNAs ( 24 nt - siRNAs ) , which guide DNA methylation . Individually , the CLSYs regulate Pol - IV - chromatin association and 24 nt - siRNA production at thousands of distinct loci , and together , they regulate essentially all 24 nt - siRNAs . Depending on the CLSYs involved , this regulation relies on different repressive chromatin modifications to facilitate locus - specific control of DNA methylation . Given the conservation between methylation systems in plants and mammals , analogous pathways likely operate in a broad range of organisms . 
 [ 해외 논문 ] Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing SCI SCIE 
 Matreyek , Kenneth A . ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Starita , Lea M . ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Stephany , Jason J . ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Martin , Beth ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Chiasson , Melissa A . ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Gray , Vanessa E . ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Kircher , Martin ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Khechaduri , Arineh ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Dines , Jennifer N . ( Department of Medical Genetics , University of Washington , Seattle , Washington , USA ) , Hause , Ronald J . ( Department of Genome Sciences , University of Washington , Seattle , Washington , USA ) , Bhatia , Smita ( School of Medicine , University of Alabama at Birmingham , Birmingham , Alabama , USA ) , Evans , William E . ( Department of Pharmaceutical Sciences , St . Jude Children ' s Research Hospi ) , Relling , Mary V . , Yang , Wenjian , Shendure , Jay , Fowler , Douglas M . 
 Nature genetics v . 50 no . 6 , pp . 874 - 882 , 2018 , 1061 - 4036 , 
 Determining the pathogenicity of genetic variants is a critical challenge , and functional assessment is often the only option . Experimentally characterizing millions of possible missense variants in thousands of clinically important genes requires generalizable , scalable assays . We describe Variant Abundance by Massively Parallel Sequencing ( VAMP - seq ) , which measures the effects of thousands of missense variants of a protein on intracellular abundance simultaneously . We apply VAMP - seq to quantify the abundance of 7 , 801 single amino acid variants of PTEN and TPMT , proteins in which functional variants are clinically actionable . We identify 1 , 138 PTEN and 777 TPMT variants that result in low protein abundance , and may be pathogenic or alter drug metabolism , respectively . We observe selection for low - abundance PTEN variants in cancer , and reveal that p . Pro 38 Ser , which accounts for ~ 10 % of PTEN missense variants in melanoma , functions via a dominant negative mechanism . Finally , we demonstrate that VAMP - seq is applicable to other genes , highlighting its generalizability . 
 [ 해외 논문 ] UTX - mediated enhancer and chromatin remodeling suppresses myeloid leukemogenesis through noncatalytic inverse regulation of ETS and GATA programs SCI SCIE 
 Gozdecka , Malgorzata ( Haematological Cancer Genetics , Wellcome Trust Sanger Institute , Hinxton , UK ) , Meduri , Eshwar ( Wellcome Trust – MRC Stem Cell Institute , Cambridge Biomedical Campus , University of Cambridge , Cambridge , UK ) , Mazan , Milena ( Wellcome Trust – MRC Stem Cell Institute , Cambridge Biomedical Campus , University of Cambridge , Cambridge , UK ) , Tzelepis , Konstantinos ( Haematological Cancer Genetics , Wellcome Trust Sanger Institute , Hinxton , UK ) , Dudek , Monika ( Wellcome Trust – MRC Stem Cell Institute , Cambridge Biomedical Campus , University of Cambridge , Cambridge , UK ) , Knights , Andrew J . ( Haematological Cancer Genetics , Wellcome Trust Sanger Institute , Hinxton , UK ) , Pardo , Mercedes ( Haematological Cancer Genetics , Wellcome Trust Sanger Institute , Hinxton , UK ) , Yu , Lu ( Genomics of Gene Regulation , Wellcome Trust Sanger Institute , Hinxton , UK ) , Choudhary , Jyoti S . ( Proteomic Mass Spectrometry , Wellcome Trust Sanger Institute , Wellcome Trust Genome Campus , Hinxton , UK ) , Metzakopian , Emmanouil ( Proteomic Mass Spectrometry , Wellcome Trust Sanger Institute , Wellcome Trust Genome Campus , Hinxton , UK ) , Iyer , Vivek ( Proteomic Mass Spectrometry , Wellcome Trust S ) , Yun , Haiyang , Park , Naomi , Varela , Ignacio , Bautista , Ruben , Collord , Grace , Dovey , Oliver , Garyfallos , Dimitrios A . , De Braekeleer , Etienne , Kondo , Saki , Cooper , Jonathan , Gö , ttgens , Berthold , Bullinger , Lars , Northcott , Paul A . , Adams , David , Vassiliou , George S . , Huntly , Brian J . P . 
 Nature genetics v . 50 no . 6 , pp . 883 - 894 , 2018 , 1061 - 4036 , 
 [ 해외 논문 ] Quantification of subclonal selection in cancer from bulk sequencing data SCI SCIE 
 Williams , Marc J . ( Evolution and Cancer Laboratory , Barts Cancer Institute , Queen Mary University of London , London , UK ) , Werner , Benjamin ( Department of Cell and Developmental Biology , University College London , London , UK ) , Heide , Timon ( Centre for Mathematics and Physics in the Life Sciences and Experimental Biology ( CoMPLEX ) , University College London , London , UK ) , Curtis , Christina ( Evolutionary Genomics & Modelling Lab , Centre for Evolution and Cancer , Institute of Cancer Research , London , UK ) , Barnes , Chris P . ( Evolutionary Genomics & Modelling Lab , Centre for Evolution and Cancer , Institute of Cancer Research , London , UK ) , Sottoriva , Andrea ( Departments of Medicine and Genetics , Stanford University School of Medicine , Stanford , CA , USA ) , Graham , Trevor A . ( Stanford Cancer Institute , Stanford University School of Medicine , Stanford , CA , USA ) 
 Nature genetics v . 50 no . 6 , pp . 895 - 903 , 2018 , 1061 - 4036 ,