Functional annotation of noncoding sequence variants.

ABSTRACT: 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.

SUBMITTER: Ritchie GR 

PROVIDER: S-EPMC5015703 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature