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Exome Sequencing of Familial Bipolar Disorder.

  • Academic Journal
  • Goes FS; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland.
    Pirooznia M; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland.
    Parla JS; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
    Kramer M; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
    Ghiban E; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
    Mavruk S; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
    Chen YC; Department of Biomedical Engineering, The Johns Hopkins University, Baltimore, Maryland4Institute for Computational Medicine, The Johns Hopkins University, Baltimore, Maryland.
    Monson ET; Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City.
    Willour VL; Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City.
    Karchin R; Department of Biomedical Engineering, The Johns Hopkins University, Baltimore, Maryland4Institute for Computational Medicine, The Johns Hopkins University, Baltimore, Maryland.
    Flickinger M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor.
    Locke AE; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor.
    Levy SE; HudsonAlpha Institute of Biotechnology, Huntsville, Alabama.
    Scott LJ; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor.
    Boehnke M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor.
    Stahl E; Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York9Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York.
    Moran JL; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
    Hultman CM; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Landén M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden12Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
    Purcell SM; Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York9Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York10Stanley Center for Psychiat.
    Sklar P; Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York9Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York15Friedman Brain Institute, I.
    Zandi PP; Department of Mental Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
    McCombie WR; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
    Potash JB; Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City.
  • JAMA psychiatry [JAMA Psychiatry] 2016 Jun 01; Vol. 73 (6), pp. 590-7.
  • English
  • Importance: Complex disorders, such as bipolar disorder (BD), likely result from the influence of both common and rare susceptibility alleles. While common variation has been widely studied, rare variant discovery has only recently become feasible with next-generation sequencing.
    Objective: To utilize a combined family-based and case-control approach to exome sequencing in BD using multiplex families as an initial discovery strategy, followed by association testing in a large case-control meta-analysis.
    Design, Setting, and Participants: We performed exome sequencing of 36 affected members with BD from 8 multiplex families and tested rare, segregating variants in 3 independent case-control samples consisting of 3541 BD cases and 4774 controls.
    Main Outcomes and Measures: We used penalized logistic regression and 1-sided gene-burden analyses to test for association of rare, segregating damaging variants with BD. Permutation-based analyses were performed to test for overall enrichment with previously identified gene sets.
    Results: We found 84 rare (frequency
Additional Information
Publisher: American Medical Association Country of Publication: United States NLM ID: 101589550 Publication Model: Print Cited Medium: Internet ISSN: 2168-6238 (Electronic) Linking ISSN: 2168622X NLM ISO Abbreviation: JAMA Psychiatry Subsets: MEDLINE
Original Publication: Chicago, IL : American Medical Association, [2013]-
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K01 MH093809 United States MH NIMH NIH HHS; R01 MH087979 United States MH NIMH NIH HHS; T32 HG000040 United States HG NHGRI NIH HHS; U01 MH105653 United States MH NIMH NIH HHS; R01 MH087992 United States MH NIMH NIH HHS; R01 MH106531 United States MH NIMH NIH HHS; R00 MH086049 United States MH NIMH NIH HHS; T32 GM007337 United States GM NIGMS NIH HHS; R01 MH094145 United States MH NIMH NIH HHS
0 (FMR1 protein, human)
139135-51-6 (Fragile X Mental Retardation Protein)
Date Created: 20160428 Date Completed: 20170508 Latest Revision: 20210406
20211214
PMC5600716
10.1001/jamapsychiatry.2016.0251
27120077
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