Functional annotation of noncoding sequence variants.
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.
1] European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK. [2] Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Graham R S
0000000264569736
GR
Ritchie
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK.
Ian
0000000325255598
I
Dunham
Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Eleftheria
E
Zeggini
1] European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK. [2] Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Paul
P
Flicek
D000465:Algorithms; D003198:Computer Simulation; D014644:Genetic Variation; D006801:Humans; D058977:Molecular Sequence Annotation; D020506:Untranslated Regions / Q000235:genetics*
D020506:Untranslated Regions