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

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

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

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Citation: Karczewski, K. J., B. Weisburd, B. Thomas, M. Solomonson, D. M. Ruderfer, D. Kavanagh, T. Hamamsy, et al. 2017. “The ExAC browser: displaying reference data information from over 60 000 exomes.” Nucleic Acids Research 45 (Database issue): D840-D845. doi:10.1093/nar/gkw971. http://dx.doi.org/10.1093/nar/gkw971.
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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.
Published Version: doi:10.1093/nar/gkw971
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210650/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:30371099
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