The ExAC browser: displaying reference data information from over 60 000 exomes

• Published in: Nucleic acids research Vol. 45; no. D1; pp. D840 - D845
• Main Authors: Karczewski, Konrad J, Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M, Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E, Cummings, Beryl B, Birnbaum, Daniel, Daly, Mark J, MacArthur, Daniel G
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 04.01.2017
• Subjects: Computational Biology - methods; Database Issue; Databases, Genetic; Exome; Genome-Wide Association Study - methods; Genomics - methods; Humans; Software; User-Computer Interface; Web Browser
• ISSN: 0305-1048; 1362-4962
• DOI: 10.1093/nar/gkw971

Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information for variant interpretation and understanding gene function. Here, we present a lightweight, flexible browser framework to display large population datasets of genetic variation. We demonstrate its use for exome sequence data from 60 706 individuals in the Exome Aggregation Consortium (ExAC). The ExAC browser provides gene- and transcript-centric displays of variation, a critical view for clinical applications. Additionally, we provide a variant display, which includes population frequency and functional annotation data as well as short read support for the called variant. This browser is open-source, freely available at http://exac.broadinstitute.org, and has already been used extensively by clinical laboratories worldwide.