Article
Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.
Nucleic acids research - 16 Nov 2016
Shim Hongseok, Kim Ji Hyun, Kim Chan Yeong, Hwang Sohyun, Kim Hyojin, Yang Sunmo, Lee Ji Eun, Lee Insuk
Abstract excerpt
Whole exome sequencing (WES) accelerates disease gene discovery using rare genetic variants, but further statistical and functional evidence is required to avoid false-discovery. To complement variant-driven disease gene discovery, here we present function-driven disease gene discovery in zebrafish (Danio rerio), a promising human disease model owing to its high anatomical and genomic similarity to humans. To...
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