Kuyini ukuhlaziywa kokuguquka komzimba kumdlavuza, ku-genomics?
Kumdlavuza, ama-genome amangqamuzana athintekile ahlelwa kabusha ngezindlela eziyinkimbinkimbi noma ezingalindelekile. Imizamo emikhulu yokulandelela izakhi zofuzo isetshenziselwa ukukhomba ukuguquka kwezakhi zofuzo ezazingaziwa ngaphambili ezinhlotsheni ezihlukahlukene zamagciwane omdlavuza. Izazi ze-bioinformatics ziyaqhubeka zikhiqiza izinhlelo ezizenzakalelayo ezikhethekile zokuphatha inani elikhulu lemininingwane yokulandelana ekhiqizwayo, futhi zakha ama-algorithms amasha nesoftware ukuqhathanisa imiphumela yokulandelana neqoqo elikhulayo lokulandelana kwezakhi zofuzo zomuntu kanye nama-germline polymorphisms. Kusetshenziswa ubuchwepheshe obusha bokutholwa ngokomzimba, njengama-microarrays e-oligonucleotide ukukhomba ukuzuza nokulahleka kwe-chromosomal (okubizwa ngokuthi i-comparative genomic hybridization), kanye nama-arrays e-single-nucleotide polymorphism ukuthola ukuguquka kwephuzu okwaziwayo. Lezi zindlela zokuthola zilinganisa amasayithi ayizinkulungwane ezingamakhulu eziningana kuyo yonke i-genome ngesikhathi esisodwa, futhi lapho zisetshenziswa ngamandla aphezulu ukuze zilinganise izinkulungwane zamasampula, zikhiqiza ama-terabyte emininingwane ngokuhlolwa ngakunye. Nalapha futhi, amanani amakhulu nezinhlobo ezintsha zedatha kudala amathuba amasha ososayensi be-bioinformatics. Ngokuvamile kutholakala ukuthi idatha iqukethe ukuguquguquka okukhulu, noma umsindo, ngakho-ke imodeli ye-Hidden Markov kanye nezindlela zokuhlaziya amaphuzu eziguquguqukayo ziyasungulwa ukuze kucatshangelwe izinguquko zangempela zenombolo yekhophi.  Kunezimiso ezimbili ezibalulekile ezingasetshenziswa ekuhlaziyweni kwama-cancer genomes ngokwe-bioinformatically ephathelene nokuhlonza ukuguquka kwezakhi zofuzo ku-exome. Okokuqala, umdlavuza uyisifo sokuguquka kwezakhi zofuzo okuqoqekile. Umdlavuza wesibili uqukethe ukuguquka komshayeli okudingeka kuhlukaniswe nabagibeli.  Ngokuthuthuka okulethwe yilobu buchwepheshe besizukulwane esilandelayo bokulandelela izakhi zofuzo emkhakheni we - Bioinformatics, i - genomics yomdlavuza ingashintsha kakhulu. Lezi zindlela ezintsha nesofthiwe kuvumela izazi ze-bioinformatics ukuba zilandelanise ngokushesha futhi ngezindleko eziphansi izakhi zofuzo eziningi zomdlavuza. Lokhu kungadala inqubo eguquguqukayo yokuhlukanisa izinhlobo zomdlavuza ngokuhlaziya ukuguquka kwezakhi zofuzo ezibangelwa umdlavuza. Ngaphezu kwalokho, ukulandelela iziguli njengoba isifo siqhubeka kungase kwenzeke esikhathini esizayo ngokulandelana kwamasampula omdlavuza.  Olunye uhlobo lwedatha oludinga ukuthuthukiswa kwe-informatics entsha ukuhlaziywa kwezifo ezitholakala ziphindaphindeka phakathi kwamathumba amaningi.