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 language | English |
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Pages (from-to) | 294-296 |
Number of pages | 3 |
Journal | Nature Methods |
Volume | 11 |
Issue number | 3 |
DOIs | |
State | Published - Mar 2014 |
Externally published | Yes |