Functional annotation of noncoding sequence variants.
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ABSTRACT:
SUBMITTER: Ritchie GR
PROVIDER: S-EPMC5015703 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Publications
Functional annotation of noncoding sequence variants.
Ritchie Graham R S GR Dunham Ian I Zeggini Eleftheria E Flicek Paul P
Nature methods 20140202 3
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 ...[more]
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