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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

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Title: Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Authors: Einson J; Department of Biomedical Informatics, Columbia University, New York, NY 10027, USA.; New York Genome Center, New York, NY 10013, USA., Glinos D; New York Genome Center, New York, NY 10013, USA., Boerwinkle E; School of Public Health, University of Texas Health at Houston, Houston, TX 77030, USA., Castaldi P; Department of Medicine, Brigham & Women's Hospital, Boston, MA 02115, USA., Darbar D; Department of Cardiology, University of Illinois at Chicago, Chicago, IL 60607, USA., de Andrade M; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, USA., Ellinor P; Corrigan Minehan Heart Center, Massachusetts General Hospital, Boston, MA 02114, USA., Fornage M; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health at Houston, Houston, TX 77030, USA., Gabriel S; Broad Institute, Cambridge, MA 02142, USA., Germer S; New York Genome Center, New York, NY 10013, USA., Gibbs R; Department of Molecular and Human Genetics, Baylor College of Medicine Human Genome Sequencing Center, Houston, TX 77030, USA., Hersh CP; Channing Division of Network Medicine and Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., Johnsen J; Department of Hematology, University of Washington, Seattle, WA 98195, USA., Kaplan R; Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Konkle BA; Department of Hematology, University of Washington, Seattle, WA 98195, USA., Kooperberg C; Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Nassir R; Department of Pathology, School of Medicine, Umm Al-Qura University, Mecca 24382, Saudi Arabia., Loos RJF; Environmental Medicine & Public Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Meyers DA; Department of Medicine, University of Arizona, Tucson, AZ 85721, USA., Mitchell BD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.; Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD 21201, USA., Psaty B; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Systems and Population Health, University of Washington, Seattle, WA 98195, USA., Vasan RS; Department of Medicine, Boston University, Boston, MA 02118, USA., Rich SS; Public Health Sciences, University of Virginia, Charlottesville, VA 22903, USA., Rienstra M; Clinical Cardiology, UMCG Cardiology, Groningen 09713, the Netherlands., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Saferali A; Channing Division of Network Medicine and Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., Shoemaker MB; Department of Medicine, Vanderbilt University, Nashville, TN 37235, USA., Silverman E; Channing Division of Network Medicine and Division of Pulmonary and Critical Care Medicine, Brigham & Women's Hospital, Boston, MA 02115, USA., Smith AV; Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA., Mohammadi P; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA 92037, USA., Castel SE; New York Genome Center, New York, NY 10013, USA.; Variant Bio, Seattle, WA 98102, USA., Iossifov I; New York Genome Center, New York, NY 10013, USA.; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA., Lappalainen T; New York Genome Center, New York, NY 10013, USA.; Department of Systems Biology, Columbia University, New York, NY 10027, USA.; Department of Gene Technology, KTH Royal Institute of Technology, Stockholm 114 28, Sweden.
Corporate Authors: NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Source: Genetics [Genetics] 2023 Aug 09; Vol. 224 (4).
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE
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