Functional annotation of non-coding sequence variants

  title={Functional annotation of non-coding sequence variants},
  author={Graham R. S. Ritchie and Ian Dunham and Eleftheria Zeggini and Paul Flicek},
  booktitle={Nature Methods},
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… CONTINUE READING
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