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Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845. doi: 10.1093/nar/gkw971. Epub 2016 Nov 28.

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

Author information

1
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA konradjkarczewski@gmail.com.
2
Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
3
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.
4
Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029 USA.

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.

PMID:
27899611
PMCID:
PMC5210650
DOI:
10.1093/nar/gkw971
[Indexed for MEDLINE]
Free PMC Article

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