Friday, February 7, 2014

Fwd: Functional annotation of noncoding sequence variants

Fwd: please follow footer link

Functional annotation of noncoding sequence variants: "

Nature Methods.
doi:10.1038/nmeth.2832

Authors: Graham R S Ritchie, Ian Dunham, Eleftheria Zeggini & Paul Flicek

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.

"

(Via Nature Methods aop.)