
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.
Untranslated Regions, Genetic Variation, Humans, Computer Simulation, Molecular Sequence Annotation, Article, Algorithms
Untranslated Regions, Genetic Variation, Humans, Computer Simulation, Molecular Sequence Annotation, Article, Algorithms
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