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A cross-disorder dosage sensitivity map of the human genome.

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Title: A cross-disorder dosage sensitivity map of the human genome.
Authors: Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA. Electronic address: rlcollins@g.harvard.edu., Glessner JT; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Division of Human Genetics, Perelman School of Medicine, Philadelphia, PA 19104, USA., Porcu E; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland., Lepamets M; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia; Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia., Brandon R; GeneDx, Gaithersburg, MD 20877, USA., Lauricella C; GeneDx, Gaithersburg, MD 20877, USA., Han L; Division of Genetic Medicine, Department of Medicine, and Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Morley T; Division of Genetic Medicine, Department of Medicine, and Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Niestroj LM; Cologne Center for Genomics, University of Cologne, 51149 Cologne, Germany., Ulirsch J; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Everett S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Howrigan DP; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Boone PM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Karczewski KJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Kellaris G; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Lowther C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Mohajeri K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA., Nõukas M; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia; Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia., Nuttle X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10, UK., Trinh M; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10, UK., Ullah F; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Võsa U; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia., Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10, UK., Aradhya S; GeneDx, Gaithersburg, MD 20877, USA., Davis EE; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Finucane H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Gusella JF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Janze A; GeneDx, Gaithersburg, MD 20877, USA., Katsanis N; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Matyakhina L; GeneDx, Gaithersburg, MD 20877, USA., Neale BM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Sanders D; Avenue 80, Inc., Fort Wayne, IN 46802, USA., Warren S; GeneDx, Gaithersburg, MD 20877, USA., Hodge JC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Lal D; Cologne Center for Genomics, University of Cologne, 51149 Cologne, Germany; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Ruderfer DM; Division of Genetic Medicine, Department of Medicine, and Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Center for Precision Medicine, Department of Biomedical Informatics, and Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Meck J; GeneDx, Gaithersburg, MD 20877, USA., Mägi R; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia., Esko T; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia., Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Kutalik Z; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; Center for Primary Care and Public Health, University of Lausanne, 1015 Lausanne, Switzerland; Department of Computational Biology, University of Lausanne, 1015 Lausanne, Switzerland., Hakonarson H; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Division of Human Genetics, Perelman School of Medicine, Philadelphia, PA 19104, USA., Sunyaev S; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: hbrand@broadinstitute.org., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. Electronic address: talkowsk@broadinstitute.org.
Corporate Authors: Epi25 Consortium, Estonian Biobank Research Team
Source: Cell [Cell] 2022 Aug 04; Vol. 185 (16), pp. 3041-3055.e25. Date of Electronic Publication: 2022 Aug 01.
Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE
Database: MEDLINE Ultimate
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Department of Computational Biology, University of Lausanne, 1015 Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hakonarson+H%22">Hakonarson H</searchLink>; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Division of Human Genetics, Perelman School of Medicine, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Sunyaev+S%22">Sunyaev S</searchLink>; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; 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  Data: <searchLink fieldCode="JN" term="%220413066%22">Cell</searchLink> [Cell] 2022 Aug 04; Vol. 185 (16), pp. 3041-3055.e25. <i>Date of Electronic Publication: </i>2022 Aug 01.
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        Value: 10.1016/j.cell.2022.06.036
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      – PersonEntity:
          Name:
            NameFull: Samocha KE
      – PersonEntity:
          Name:
            NameFull: Trinh M
      – PersonEntity:
          Name:
            NameFull: Ullah F
      – PersonEntity:
          Name:
            NameFull: Võsa U
      – PersonEntity:
          Name:
            NameFull: Hurles ME
      – PersonEntity:
          Name:
            NameFull: Aradhya S
      – PersonEntity:
          Name:
            NameFull: Davis EE
      – PersonEntity:
          Name:
            NameFull: Finucane H
      – PersonEntity:
          Name:
            NameFull: Gusella JF
      – PersonEntity:
          Name:
            NameFull: Janze A
      – PersonEntity:
          Name:
            NameFull: Katsanis N
      – PersonEntity:
          Name:
            NameFull: Matyakhina L
      – PersonEntity:
          Name:
            NameFull: Neale BM
      – PersonEntity:
          Name:
            NameFull: Sanders D
      – PersonEntity:
          Name:
            NameFull: Warren S
      – PersonEntity:
          Name:
            NameFull: Hodge JC
      – PersonEntity:
          Name:
            NameFull: Lal D
      – PersonEntity:
          Name:
            NameFull: Ruderfer DM
      – PersonEntity:
          Name:
            NameFull: Meck J
      – PersonEntity:
          Name:
            NameFull: Mägi R
      – PersonEntity:
          Name:
            NameFull: Esko T
      – PersonEntity:
          Name:
            NameFull: Reymond A
      – PersonEntity:
          Name:
            NameFull: Kutalik Z
      – PersonEntity:
          Name:
            NameFull: Hakonarson H
      – PersonEntity:
          Name:
            NameFull: Sunyaev S
      – PersonEntity:
          Name:
            NameFull: Brand H
      – PersonEntity:
          Name:
            NameFull: Talkowski ME
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 08
              Text: 2022 Aug 04
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1097-4172
          Numbering:
            – Type: volume
              Value: 185
            – Type: issue
              Value: 16
          Titles:
            – TitleFull: Cell
              Type: main
ResultId 1