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Nat Methods. 2014 Mar;11(3):294-6. doi: 10.1038/nmeth.2832. Epub 2014 Feb 2.

Functional annotation of noncoding sequence variants.

Author information

1
1] European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK. [2] Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
2
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK.
3
Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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.

PMID:
24487584
PMCID:
PMC5015703
DOI:
10.1038/nmeth.2832
[Indexed for MEDLINE]
Free PMC Article

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