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首页> Nature genetics> A framework for the interpretation of de novo mutation in human disease.

A framework for the interpretation of de novo mutation in human disease.

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第一作者： Kaitlin E,Samocha
第一单位： 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.
作者： Kaitlin E,Samocha [1] ; Elise B,Robinson [2] ; Stephan J,Sanders [3] ; Christine,Stevens [4] ; Aniko,Sabo [5] ; Lauren M,McGrath [6] ; Jack A,Kosmicki [7] ; Karola,Rehnström [8] ; Swapan,Mallick [9] ; Andrew,Kirby [10] ; Dennis P,Wall [11] ; Daniel G,MacArthur [10] ; Stacey B,Gabriel [12] ; Mark,DePristo [13] ; Shaun M,Purcell [14] ; Aarno,Palotie [15] ; Eric,Boerwinkle [16] ; Joseph D,Buxbaum [17] ; Edwin H,Cook [18] ; Richard A,Gibbs [5] ; Gerard D,Schellenberg [19] ; James S,Sutcliffe [20] ; Bernie,Devlin [21] ; Kathryn,Roeder [22] ; Benjamin M,Neale [2] ; Mark J,Daly [2]
作者单位： 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA. [1] 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] 1] Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA. [2] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. [3] 1] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. [5] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [6] 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA. [3] Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA. [7] 1] Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. [2] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. [8] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA. [9] 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [10] 1] Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA. [2] Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA. [11] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [12] Synapdx, Lexington, Massachusetts, USA. [13] 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [4] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [5] Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [6] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [14] 1] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. [3] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. [15] 1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. [2] Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas, USA. [16] 1] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [4] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [5] Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [6] Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [17] Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, USA. [18] Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. [19] Center for Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee, USA. [20] Department of Psychiatry, University of Pittsburgh Medical School, Pittsburgh, Pennsylvania, USA. [21] 1] Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA. [2] Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA. [22]
医学主题词 儿童发育障碍, 广泛性(Child Development Disorders, Pervasive);女(雌)性(Female);遗传密码(Genetic Code);疾病遗传易感性(Genetic Predisposition to Disease);遗传学, 医学(Genetics, Medical);人类(Humans);男(雄)性(Male);突变(Mutation)
DOI 10.1038/ng.3050
PMID 25086666
发布时间 2026-05-23
基金项目
U24 MH081810/MH/NIMH NIH HHS/United States R37 MH057881/MH/NIMH NIH HHS/United States R01 MH089004/MH/NIMH NIH HHS/United States U54HG003067/HG/NHGRI NIH HHS/United States R01 MH057881/MH/NIMH NIH HHS/United States HL-102924/HL/NHLBI NIH HHS/United States RC2 HL102924/HL/NHLBI NIH HHS/United States U24 MH068457/MH/NIMH NIH HHS/United States HL-102925/HL/NHLBI NIH HHS/United States RC2 HL103010/HL/NHLBI NIH HHS/United States R01 MH089482/MH/NIMH NIH HHS/United States RC2 HL102923/HL/NHLBI NIH HHS/United States UC2 HL102926/HL/NHLBI NIH HHS/United States R01 MH089208/MH/NIMH NIH HHS/United States UC2 HL103010/HL/NHLBI NIH HHS/United States HL-103010/HL/NHLBI NIH HHS/United States U54 HG003067/HG/NHGRI NIH HHS/United States U54HG003273/HG/NHGRI NIH HHS/United States U01 MH100229/MH/NIMH NIH HHS/United States P50HD055751/HD/NICHD NIH HHS/United States RC2 HL102926/HL/NHLBI NIH HHS/United States R01 MH061009/MH/NIMH NIH HHS/United States U24MH068457/MH/NIMH NIH HHS/United States 1U24MH081810/MH/NIMH NIH HHS/United States R01MH061009/MH/NIMH NIH HHS/United States T32 HG002295/HG/NHGRI NIH HHS/United States U54 HG003273/HG/NHGRI NIH HHS/United States R01MH089175/MH/NIMH NIH HHS/United States P50 HD055751/HD/NICHD NIH HHS/United States HL-102926/HL/NHLBI NIH HHS/United States R01 MH089025/MH/NIMH NIH HHS/United States R01MH089004/MH/NIMH NIH HHS/United States R01MH089208/MH/NIMH NIH HHS/United States R01 MH089175/MH/NIMH NIH HHS/United States R01MH057881/MH/NIMH NIH HHS/United States UC2 HL102923/HL/NHLBI NIH HHS/United States UC2 HL102924/HL/NHLBI NIH HHS/United States HL-102923/HL/NHLBI NIH HHS/United States R01MH089025/MH/NIMH NIH HHS/United States R01MH089482/MH/NIMH NIH HHS/United States RC2 HL102925/HL/NHLBI NIH HHS/United States UC2 HL102925/HL/NHLBI NIH HHS/United States
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Nature genetics

Nature genetics

2014年46卷9期

944-50页

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