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Functional annotation of noncoding sequence variants.

Graham R S RitchieIan DunhamEleftheria ZegginiPaul Flicek
Published in: Nature methods (2014)
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.
Keyphrases
  • copy number
  • genome wide
  • dna methylation
  • endothelial cells
  • gene expression
  • protein protein