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The ExAC Browser: Displaying reference data information from over 60,000 exomes

Konrad J. Karczewski, Ben Weisburd, Brett Thomas, Douglas M. Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E. Samocha, Beryl B. Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J. Daly, Daniel G. MacArthur
doi: https://doi.org/10.1101/070581
Konrad J. Karczewski
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Ben Weisburd
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Brett Thomas
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Douglas M. Ruderfer
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
3 Department of Psychiatry, Mt. Sinai Hospital, NY, USA
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David Kavanagh
3 Department of Psychiatry, Mt. Sinai Hospital, NY, USA
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Tymor Hamamsy
3 Department of Psychiatry, Mt. Sinai Hospital, NY, USA
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Monkol Lek
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Kaitlin E. Samocha
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Beryl B. Cummings
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Daniel Birnbaum
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Mark J. Daly
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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Daniel G. MacArthur
1 Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
2 Broad Institute of Harvard and MIT, Cambridge, MA, USA
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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, and has already been used extensively by clinical laboratories worldwide.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
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Posted August 19, 2016.
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The ExAC Browser: Displaying reference data information from over 60,000 exomes
Konrad J. Karczewski, Ben Weisburd, Brett Thomas, Douglas M. Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E. Samocha, Beryl B. Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J. Daly, Daniel G. MacArthur
bioRxiv 070581; doi: https://doi.org/10.1101/070581
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The ExAC Browser: Displaying reference data information from over 60,000 exomes
Konrad J. Karczewski, Ben Weisburd, Brett Thomas, Douglas M. Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E. Samocha, Beryl B. Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J. Daly, Daniel G. MacArthur
bioRxiv 070581; doi: https://doi.org/10.1101/070581

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