1] European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK. [2] Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK.
Nat Methods. 2014 Mar;11(3):294-6. doi: 10.1038/nmeth.2832. Epub 2014 Feb 2.
Identifying functionally relevant variants against the background of ubiquitous genetic variation is a major challenge in human genetics. For variants in protein-coding regions, our understanding of the genetic code and splicing allows us to identify likely candidates, but interpreting variants outside genic regions is more difficult. Here we present genome-wide annotation of variants (GWAVA), a tool that supports prioritization of noncoding variants by integrating various genomic and epigenomic annotations.
在普遍存在的遗传变异背景下识别功能相关的变异是人类遗传学的主要挑战。对于编码区域的变异，我们对遗传密码和剪接的理解使我们能够识别可能的候选者，但解释基因区域外的变异则更加困难。在这里，我们介绍了全基因组注释变异（GWAVA），这是一种通过整合各种基因组和表观基因组注释来支持优先考虑非编码变异的工具。
