Functional annotation of noncoding sequence variants

Graham R.S. Ritchie, Ian Dunham, Eleftheria Zeggini, Paul Flicek

Research output: Contribution to journalArticlepeer-review

421 Scopus citations

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.

Original languageEnglish
Pages (from-to)294-296
Number of pages3
JournalNature Methods
Volume11
Issue number3
DOIs
StatePublished - Mar 2014
Externally publishedYes

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