Functional annotation of noncoding sequence variants
Nature methods, 2014•nature.com
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.
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.
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.
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