title: The ExAC browser: displaying reference data information from over 60 000 exomes.
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.
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA konradjkarczewski@gmail.com.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Konrad J
authors.identifier: 0000-0003-2878-4671
authors.initials: KJ
authors.lastname: Karczewski
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Ben
authors.initials: B
authors.lastname: Weisburd
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Brett
authors.initials: B
authors.lastname: Thomas
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Solomonson
authors.affiliation: Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029 USA.
authors.forename: Douglas M
authors.initials: DM
authors.lastname: Ruderfer
authors.affiliation: Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029 USA.
authors.forename: David
authors.initials: D
authors.lastname: Kavanagh
authors.affiliation: Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029 USA.
authors.forename: Tymor
authors.initials: T
authors.lastname: Hamamsy
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Monkol
authors.initials: M
authors.lastname: Lek
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Kaitlin E
authors.initials: KE
authors.lastname: Samocha
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Beryl B
authors.initials: BB
authors.lastname: Cummings
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.|Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142 USA.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: MacArthur
mesh_terms: D019295:Computational Biology / Q000379:methods*; D030541:Databases, Genetic; D059472:Exome; D055106:Genome-Wide Association Study / Q000379:methods; D023281:Genomics / Q000379:methods*; D006801:Humans; D012984:Software; D014584:User-Computer Interface; D064878:Web Browser