title: Analysis of protein-coding genetic variation in 60,706 humans.
abstract: Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence. We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype. Finally, we demonstrate that these data can be used for the efficient filtering of candidate disease-causing variants, and for the discovery of human 'knockout' variants in protein-coding genes.
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|School of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales 2145, Australia.|Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia.
authors.forename: Monkol
authors.initials: M
authors.lastname: Lek
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Konrad J
authors.initials: KJ
authors.lastname: Karczewski
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Eric V
authors.initials: EV
authors.lastname: Minikel
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts 02115, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Kaitlin E
authors.initials: KE
authors.lastname: Samocha
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Banks
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Timothy
authors.initials: T
authors.lastname: Fennell
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
authors.forename: Anne H
authors.initials: AH
authors.lastname: O'Donnell-Luria
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.|National Heart and Lung Institute, Imperial College London, London SW7 2AZ, UK.|NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital, London SW3 6NP, UK.|MRC Clinical Sciences Centre, Imperial College London, London SW7 2AZ, UK.
authors.forename: James S
authors.initials: JS
authors.lastname: Ware
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Genome Sciences, University of Washington, Seattle, Washington 98195, USA.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Hill
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Beryl B
authors.initials: BB
authors.lastname: Cummings
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Taru
authors.initials: T
authors.lastname: Tukiainen
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Birnbaum
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Jack A
authors.initials: JA
authors.lastname: Kosmicki
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Laramie E
authors.initials: LE
authors.lastname: Duncan
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Karol
authors.initials: K
authors.lastname: Estrada
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Fengmei
authors.initials: F
authors.lastname: Zhao
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: James
authors.initials: J
authors.lastname: Zou
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Emma
authors.initials: E
authors.lastname: Pierce-Hoffman
authors.affiliation: Mouse Genome Informatics, Jackson Laboratory, Bar Harbor, Maine 04609, USA.|Center for Biomedical Informatics and Biostatistics, University of Arizona, Tucson, Arizona 85721, USA.
authors.forename: Joanne
authors.initials: J
authors.lastname: Berghout
authors.affiliation: Institute of Medical Genetics, Cardiff University, Cardiff CF10 3XQ, UK.
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
authors.affiliation: Google, Mountain View, California 94043, USA.
authors.forename: Nicole
authors.initials: N
authors.lastname: Deflaux
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Mark
authors.initials: M
authors.lastname: DePristo
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|The Center for Statistical Genetics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors.forename: Ron
authors.initials: R
authors.lastname: Do
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Jason
authors.initials: J
authors.lastname: Flannick
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors.forename: Menachem
authors.initials: M
authors.lastname: Fromer
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Laura
authors.initials: L
authors.lastname: Gauthier
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Jackie
authors.initials: J
authors.lastname: Goldstein
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Namrata
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Howrigan
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Adam
authors.initials: A
authors.lastname: Kiezun
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Mitja I
authors.initials: MI
authors.lastname: Kurki
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Ami Levy
authors.initials: AL
authors.lastname: Moonshine
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Harvard Medical School, Boston, Massachusetts 02115, USA.|Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Pradeep
authors.initials: P
authors.lastname: Natarajan
authors.affiliation: Immunogenomics and Metabolic Disease Laboratory, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico.
authors.forename: Lorena
authors.initials: L
authors.lastname: Orozco
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Gina M
authors.initials: GM
authors.lastname: Peloso
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Ryan
authors.initials: R
authors.lastname: Poplin
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Manuel A
authors.initials: MA
authors.lastname: Rivas
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Valentin
authors.initials: V
authors.lastname: Ruano-Rubio
authors.affiliation: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Samuel A
authors.initials: SA
authors.lastname: Rose
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors.forename: Douglas M
authors.initials: DM
authors.lastname: Ruderfer
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Khalid
authors.initials: K
authors.lastname: Shakir
authors.affiliation: Institute of Medical Genetics, Cardiff University, Cardiff CF10 3XQ, UK.
authors.forename: Peter D
authors.initials: PD
authors.lastname: Stenson
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Stevens
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Brett P
authors.initials: BP
authors.lastname: Thomas
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Grace
authors.initials: G
authors.lastname: Tiao
authors.affiliation: Molecular Biology and Genomic Medicine Unit, Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City 14080, Mexico.
authors.forename: Maria T
authors.initials: MT
authors.lastname: Tusie-Luna
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Ben
authors.initials: B
authors.lastname: Weisburd
authors.affiliation: Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, South Korea.
authors.forename: Hong-Hee
authors.initials: HH
authors.lastname: Won
authors.affiliation: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Dongmei
authors.initials: D
authors.lastname: Yu
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Vertex Pharmaceuticals, Boston, Massachusetts 02210, USA.
authors.forename: David M
authors.initials: DM
authors.lastname: Altshuler
authors.affiliation: Department of Cardiology, University Hospital, 43100 Parma, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Ardissino
authors.affiliation: Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Boehnke
authors.affiliation: Department of Public Health and Primary Care, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.
authors.forename: John
authors.initials: J
authors.lastname: Danesh
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Stacey
authors.initials: S
authors.lastname: Donnelly
authors.affiliation: Cardiovascular Epidemiology and Genetics, Hospital del Mar Medical Research Institute, 08003 Barcelona, Spain.
authors.forename: Roberto
authors.initials: R
authors.lastname: Elosua
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Harvard Medical School, Boston, Massachusetts 02115, USA.|Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Jose C
authors.initials: JC
authors.lastname: Florez
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Stacey B
authors.initials: SB
authors.lastname: Gabriel
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Harvard Medical School, Boston, Massachusetts 02115, USA.|Department of Pathology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, 02114 USA.
authors.forename: Gad
authors.initials: G
authors.lastname: Getz
authors.affiliation: Psychiatric Genetic Epidemiology &Neurobiology Laboratory, State University of New York, Upstate Medical University, Syracuse, New York 13210, USA.|Department of Psychiatry and Behavioral Sciences, State University of New York, Upstate Medical University, Syracuse, New York 13210, USA.|Department of Neuroscience and Physiology, State University of New York, Upstate Medical University, Syracuse, New York 13210, USA.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Glatt
authors.affiliation: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.
authors.forename: Christina M
authors.initials: CM
authors.lastname: Hultman
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Harvard Medical School, Boston, Massachusetts 02115, USA.|Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Sekar
authors.initials: S
authors.lastname: Kathiresan
authors.affiliation: Department of Medicine, University of Eastern Finland and Kuopio University Hospital, 70211 Kuopio, Finland.
authors.forename: Markku
authors.initials: M
authors.lastname: Laakso
authors.affiliation: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Steven
authors.initials: S
authors.lastname: McCarroll
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.|Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX1 2JD, UK.|Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Foundation Trust, Oxford OX1 2JD, UK.
authors.forename: Mark I
authors.initials: MI
authors.lastname: McCarthy
authors.affiliation: Inflammatory Bowel Disease and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
authors.forename: Dermot
authors.initials: D
authors.lastname: McGovern
authors.affiliation: Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
authors.forename: Ruth
authors.initials: R
authors.lastname: McPherson
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Benjamin M
authors.initials: BM
authors.lastname: Neale
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts 02115, USA.|Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00100 Helsinki, Finland.
authors.forename: Aarno
authors.initials: A
authors.lastname: Palotie
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors.forename: Shaun M
authors.initials: SM
authors.lastname: Purcell
authors.affiliation: Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.|Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.|Center for Non-Communicable Diseases, Karachi, Pakistan.
authors.forename: Danish
authors.initials: D
authors.lastname: Saleheen
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Jeremiah M
authors.initials: JM
authors.lastname: Scharf
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors.forename: Pamela
authors.initials: P
authors.lastname: Sklar
authors.affiliation: Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599, USA.|Department of Medical Epidemiology and Biostatistics, Karolinska Institutet SE-171 77 Stockholm, Sweden.
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Sullivan
authors.affiliation: Department of Public Health, University of Helsinki, 00100 Helsinki, Finland.
authors.forename: Jaakko
authors.initials: J
authors.lastname: Tuomilehto
authors.affiliation: Department of Psychiatry, University of California, San Diego, California 92093, USA.
authors.forename: Ming T
authors.initials: MT
authors.lastname: Tsuang
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.|Radcliffe Department of Medicine, University of Oxford, Oxford OX1 2JD, UK.
authors.forename: Hugh C
authors.initials: HC
authors.lastname: Watkins
authors.affiliation: Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.
authors.forename: James G
authors.initials: JG
authors.lastname: Wilson
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.|Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: MacArthur
mesh_terms: D004252:DNA Mutational Analysis; D066264:Datasets as Topic; D059472:Exome / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D020543:Proteome / Q000235:genetics; D035583:Rare Diseases / Q000235:genetics; D018401:Sample Size
chemical_list: D020543:Proteome