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

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 popula...