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Journal Article
Functional annotation of noncoding sequence variants
2014
Overview
The genome-wide annotation of variants (GWAVA) software predicts whether noncoding variants are likely to be functional using a classifier trained on a range of genomic and epigenomic annotations.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
