Functional annotation of noncoding sequence variants.
basic_science · Level V
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- Record sourced from PubMed, PMID 24487584.
- Also identified by DOI 10.1038/nmeth.2832 and PMC identifier 5015703.
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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.
Medical subject headings
- Molecular Sequence Annotation
- Untranslated Regions