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

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ID: 307660
2016
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Abstract
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.
Reference Key
openalex_W2557981253 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Konrad J. Karczewski, Ben Weisburd, Brett Thomas, Matthew Solomonson, Douglas M. Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E. Samocha, Beryl B. Cummings, Daniel Birnbaum, Mark J. Daly, Daniel G. MacArthur
Journal Nucleic Acids Research
Year 2016
DOI
10.1093/nar/gkw971
URL
https://academic.oup.com/nar/article-pdf/45/D1/D840/8847295/gkw971.pdf
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