Journal
NUCLEIC ACIDS RESEARCH
Volume 45, Issue D1, Pages D840-D845Publisher
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkw971
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Funding
- NIGMS Fellowship [F32GM115208]
- Australian National Health and Medical Research Council C.J. Martin Fellowship
- Australian American Association Sir Keith Murdoch Fellowship
- MDA/AANEM Development Grant
- NIGMS [R01 GM104371]
- NIDDK [U54 DK105566]
- MRC [MC_UP_1102/20] Funding Source: UKRI
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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.
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