Functional annotation of noncoding sequence variants

被引：399

作者：

Ritchie, Graham R. S. ^{[1
,2
]}

Dunham, Ian ^{[1
]}

Zeggini, Eleftheria ^{[2
]}

Flicek, Paul ^{[1
,2
]}

机构：

[1] European Bioinformat Inst, European Mol Biol Lab, Cambridge, England

[2] Wellcome Trust Sanger Inst, Cambridge, England

来源：

NATURE METHODS | 2014年 / 11卷 / 03期

基金：

英国惠康基金;

关键词：

DATABASE;

D O I：

10.1038/nmeth.2832

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：294 / U351

页数：6

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