The functional impact of rare variation across the regulatory cascade.

Autor: Li T; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Ferraro N; Biomedical Informatics Training Program, Stanford University, Stanford, CA, USA., Strober BJ; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Harvard School of Public Health, Epidemiology Department, Boston, MA, USA., Aguet F; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kasela S; New York Genome Center, New York, NY, USA.; Department of Systems Biology, Columbia University, New York, NY, USA., Arvanitis M; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Medicine, Division of Cardiology, Johns Hopkins School of Medicine, Baltimore, MD, USA., Ni B; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Wiel L; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Hershberg E; Department of Genetics, Stanford University, Stanford, CA, USA., Ardlie K; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arking DE; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Beer RL; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Brody J; Cardiovascular Health Research Unit, Departments of Medicine and Epidemiology, University of Washington, Seattle, WA, USA., Blackwell TW; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Clish C; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gabriel S; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gerszten R; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Gupta N; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Johnson WC; Collaborative Health Studies Coordinating Center, University of Washington, Seattle, WA, USA., Lappalainen T; New York Genome Center, New York, NY, USA.; Department of Systems Biology, Columbia University, New York, NY, USA., Lin HJ; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Liu Y; Department of Medicine, Duke University School of Medicine, Durham, NC, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Papanicolaou G; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Pritchard JK; Department of Genetics and Biology, Stanford University, Palo Alto, CA, USA., Qasba P; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Shojaie A; Department of Biostatistics, University of Washington School of Public Health, Seattle, WA, USA., Smith J; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Sotoodehnia N; Cardiovascular Health Research Unit, Departments of Medicine and Epidemiology, University of Washington, Seattle, WA, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Tracy RP; Laboratory for Clinical Biochemistry Research, University of Vermont, Burlington, VT, USA., Van Den Berg D; Department of Preventive Medicine, University of Southern California, Los Angeles, CA, USA., Wheeler MT; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., 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, USA., Battle A; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Malone Center for Engineering of Healthcare, Johns Hopkins University, Baltimore, MD, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA.; Department of Pathology, Stanford University, Stanford, CA, USA.

Publikováno v: Cell genomics [Cell Genom] 2023 Sep 06; Vol. 3 (10), pp. 100401. Date of Electronic Publication: 2023 Sep 06 (Print Publication: 2023).

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

Autor: Taliun D; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Harris DN; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Kessler MD; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Carlson J; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Szpiech ZA; Department of Biology, Pennsylvania State University, University Park, PA, USA.; Institute for Computational and Data Sciences, Pennsylvania State University, University Park, PA, USA., Torres R; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA, USA., Taliun SAG; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Corvelo A; New York Genome Center, New York, NY, USA., Gogarten SM; Department of Biostatistics, University of Washington, Seattle, WA, USA., Kang HM; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Pitsillides AN; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., LeFaive J; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Lee SB; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Tian X; Department of Biostatistics, University of Washington, Seattle, WA, USA., Browning BL; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA., Das S; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Emde AK; New York Genome Center, New York, NY, USA., Clarke WE; New York Genome Center, New York, NY, USA., Loesch DP; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Shetty AC; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Blackwell TW; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Smith AV; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Wong Q; Department of Biostatistics, University of Washington, Seattle, WA, USA., Liu X; USF Genomics, College of Public Health, University of South Florida, Tampa, FL, USA., Conomos MP; Department of Biostatistics, University of Washington, Seattle, WA, USA., Bobo DM; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Aguet F; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Albert C; Massachusetts General Hospital, Boston, MA, USA., Alonso A; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA., Ardlie KG; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arking DE; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Aslibekyan S; University of Alabama, Birmingham, AL, USA., Auer PL; Zilber School of Public Health, University of Wisconsin Milwaukee, Milwaukee, WI, USA., Barnard J; Cleveland Clinic, Cleveland, OH, USA., Barr RG; Department of Medicine, Columbia University Medical Center, New York, NY, USA.; Department of Epidemiology, Columbia University Medical Center, New York, NY, USA., Barwick L; The Emmes Corporation, Rockville, MD, USA., Becker LC; Johns Hopkins University, Baltimore, MD, USA., Beer RL; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Benjamin EJ; Department of Medicine, Boston University School of Medicine, Boston, MA, USA.; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA.; Framingham Heart Study, Framingham, MA, USA., Bielak LF; Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA., Blangero J; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA., Boehnke M; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Bowden DW; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Brody JA; Department of Medicine, University of Washington, Seattle, WA, USA.; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA., Burchard EG; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.; Department of Medicine, University of California, San Francisco, San Francisco, CA, USA., Cade BE; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Casella JF; Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA.; Division of Pediatric Hematology, Johns Hopkins University, Baltimore, MD, USA., Chalazan B; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Chasman DI; Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Chen YI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, CA, USA., Cho MH; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Choi SH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chung MK; Department of Cardiovascular Medicine, Heart & Vascular Institute, Cleveland Clinic, Cleveland, OH, USA.; Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA., Clish CB; Metabolomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Correa A; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.; Department of Population Health Science, University of Mississippi Medical Center, Jackson, MS, USA., Curran JE; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA., Custer B; Vitalant Research Institute, San Francisco, CA, USA.; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA., Darbar D; Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA., Daya M; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., de Andrade M; Mayo Clinic, Rochester, MN, USA., DeMeo DL; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Dutcher SK; McDonnell Genome Institute, Washington University, St Louis, MO, USA.; Department of Genetics, Washington University, St Louis, MO, USA., Ellinor PT; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Emery LS; Department of Biostatistics, University of Washington, Seattle, WA, USA., Eng C; Department of Medicine, University of California, San Francisco, San Francisco, CA, USA., Fatkin D; Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Kensington, New South Wales, Australia.; Cardiology Department, St Vincent's Hospital, Darlinghurst, New South Wales, Australia., Fingerlin T; National Jewish Health, Center for Genes, Environment and Health, Denver, CO, USA., Forer L; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria., Fornage M; Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Franceschini N; Department of Epidemiology, University of North Carolina, Chapel Hill, NC, USA., Fuchsberger C; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.; Institute for Biomedicine, Eurac Research, Bolzano, Italy., Fullerton SM; Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA., Germer S; New York Genome Center, New York, NY, USA., Gladwin MT; Pittsburgh Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA.; Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Gottlieb DJ; VA Boston Healthcare System, Boston, MA, USA.; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, CA, USA., Hall ME; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., He J; Department of Epidemiology, Tulane University, New Orleans, LA, USA.; Tulane University Translational Science Institute, Tulane University, New Orleans, LA, USA., Heard-Costa NL; Framingham Heart Study, Framingham, MA, USA.; Department of Neurology, Boston University School of Medicine, Boston, MA, USA., Heckbert SR; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA., Irvin MR; Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA., Johnsen JM; Department of Medicine, University of Washington, Seattle, WA, USA.; Bloodworks Northwest Research Institute, Seattle, WA, USA., Johnson AD; Framingham Heart Study, Framingham, MA, USA.; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, MA, USA., Kaplan R; Albert Einstein College of Medicine, New York, NY, USA., Kardia SLR; Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA., Kelly T; Department of Epidemiology, Tulane University, New Orleans, LA, USA., Kelly S; Department of Epidemiology, Vitalant Research Institute, San Francisco, CA, USA.; Department of Pediatrics, UCSF Benioff Children's Hospital, Oakland, CA, USA.; Division of Pediatric Hematology, UCSF Benioff Children's Hospital, Oakland, CA, USA., Kenny EE; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kiel DP; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Hinda and Arthur Marcus Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA., Klemmer R; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Konkle BA; Department of Medicine, University of Washington, Seattle, WA, USA.; Bloodworks Northwest Research Institute, Seattle, WA, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Köttgen A; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Lange LA; Department of Medicine, University of Colorado at Denver, Aurora, CO, USA., Lasky-Su J; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Brigham and Women's Hospital, Boston, MA, USA., Levy D; Department of Medicine, Boston University School of Medicine, Boston, MA, USA.; Framingham Heart Study, Framingham, MA, USA.; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, MA, USA., Lin X; Biostatistics and Statistics, Harvard University, Boston, MA, USA., Lin KH; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Liu C; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Garman L; Department of Genes and Human Disease, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Gerszten R; Beth Israel Deaconess Medical Center, Boston, MA, USA., Lubitz SA; Massachusetts General Hospital, Boston, MA, USA., Lunetta KL; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Mak ACY; Department of Medicine, University of California, San Francisco, San Francisco, CA, USA., Manichaikul A; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA., Manning AK; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Clinical and Translational Epidemiology Unit, Mongan Institute, Massachusetts General Hospital, Boston, MA, USA.; Metabolism Program, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Mathias RA; Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., McManus DD; Cardiovascular Medicine, University of Massachusetts Medical School, Worcester, MA, USA., McGarvey ST; International Health Institute, Brown University, Providence, RI, USA.; Department of Epidemiology, Brown University, Providence, RI, USA.; Department of Anthropology, Brown University, Providence, RI, USA., Meigs JB; Division of General Internal Medicine, Massachusetts General Hospital, Harvard Medical School, The Broad Institute of MIT and Harvard, Boston, MA, USA., Meyers DA; University of Arizona, Tucson, AZ, USA., Mikulla JL; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Minear MA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Mitchell BD; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD, USA., Mohanty S; Texas Cardiac Arrhythmia Institute, St David's Medical Center, Austin, TX, USA.; Department of Internal Medicine, Dell Medical School, Austin, TX, USA., Montasser ME; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Montgomery C; Department of Genes and Human Disease, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Morrison AC; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Murabito JM; Department of Medicine, Boston University School of Medicine, Boston, MA, USA., Natale A; Texas Cardiac Arrhythmia Institute, St David's Medical Center, Austin, TX, USA., Natarajan P; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Nelson SC; Department of Biostatistics, University of Washington, Seattle, WA, USA., North KE; Department of Epidemiology, University of North Carolina, Chapel Hill, NC, USA., O'Connell JR; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Palmer ND; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA., Peloso GM; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Peyser PA; Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA., Pleiness J; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Post WS; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Psaty BM; Department of Medicine, University of Washington, Seattle, WA, USA.; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Health Services, University of Washington, Seattle, WA, USA.; Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA., Rao DC; Division of Biostatistics, Washington University in St Louis, St Louis, MO, USA., Redline S; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Reiner AP; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Roden D; Vanderbilt University Medical Center, Nashville, TN, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, CA, USA., Ruczinski I; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Sarnowski C; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Schoenherr S; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria., Schwartz DA; University of Colorado at Denver, Denver, CO, USA., Seo JS; Precision Medicine Center, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.; Macrogen Inc, Seoul, Republic of Korea.; Gong Wu Genomic Medicine Institute, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Seshadri S; Framingham Heart Study, Framingham, MA, USA.; Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Sciences Center at San Antonio, San Antonio, TX, USA., Sheehan VA; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA, USA., Sheu WH; Taichung Veterans General Hospital Taiwan, Taichung City, Taiwan., Shoemaker MB; Vanderbilt University Medical Center, Nashville, TN, USA., Smith NL; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.; Seattle Epidemiologic Research and Information Center, Department of Veterans Affairs Office of Research and Development, Seattle, WA, USA., Smith JA; Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA., Sotoodehnia N; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA., Stilp AM; Department of Biostatistics, University of Washington, Seattle, WA, USA., Tang W; Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, CA, USA., Telen M; Duke University, Durham, NC, USA., Thornton TA; Department of Biostatistics, University of Washington, Seattle, WA, USA., Tracy RP; Department of Pathology & Laboratory Medicine, University of Vermont Larner College of Medicine, Burlington, VT, USA., Van Den Berg DJ; Center for Genetic Epidemiology, Department of Preventive Medicine, University of Southern California, Los Angeles, CA, USA., Vasan RS; Department of Medicine, Boston University School of Medicine, Boston, MA, USA.; Framingham Heart Study, Framingham, MA, USA., Viaud-Martinez KA; Illumina Laboratory Services, Illumina Inc, San Diego, CA, USA., Vrieze S; Department of Psychology, University of Minnesota, Minneapolis, MN, USA., Weeks DE; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Weir BS; Department of Biostatistics, University of Washington, Seattle, WA, USA., Weiss ST; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Brigham and Women's Hospital, Boston, MA, USA., Weng LC; Massachusetts General Hospital, Boston, MA, USA., Willer CJ; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.; Department of Internal Medicine-Cardiology, University of Michigan, Ann Arbor, MI, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Zhang Y; Pittsburgh Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA.; Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Zhao X; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA., Arnett DK; Department of Epidemiology, University of Kentucky, Lexington, KY, USA., Ashley-Koch AE; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, USA., Barnes KC; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Boerwinkle E; University of Texas Health Science Center at Houston, Houston, TX, USA.; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Gabriel S; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gibbs R; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Rice KM; Department of Biostatistics, University of Washington, Seattle, WA, USA., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA., Silverman EK; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Qasba P; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Gan W; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Papanicolaou GJ; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Northwest Genomics Center, Seattle, WA, USA.; Brotman Baty Institute, Seattle, WA, USA., Browning SR; Department of Biostatistics, University of Washington, Seattle, WA, USA., Zody MC; New York Genome Center, New York, NY, USA., Zöllner S; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Wilson JG; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA., Cupples LA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA. adrienne@bu.edu.; Framingham Heart Study, Framingham, MA, USA. adrienne@bu.edu., Laurie CC; Department of Biostatistics, University of Washington, Seattle, WA, USA. cclaurie@uw.edu., Jaquish CE; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. jaquishc@nhlbi.nih.gov., Hernandez RD; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA. ryan.hernandez@mcgill.ca.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. ryan.hernandez@mcgill.ca.; Quantitative Biosciences Institute, University of California, San Francisco, San Francisco, CA, USA. ryan.hernandez@mcgill.ca.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA. ryan.hernandez@mcgill.ca.; Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, CA, USA. ryan.hernandez@mcgill.ca., O'Connor TD; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA. timothydoconnor@gmail.com.; Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA. timothydoconnor@gmail.com.; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA. timothydoconnor@gmail.com., Abecasis GR; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA. goncalo@umich.edu.

Publikováno v: Nature [Nature] 2021 Feb; Vol. 590 (7845), pp. 290-299. Date of Electronic Publication: 2021 Feb 10.

Centroacinar cells: At the center of pancreas regeneration.

Autor: Beer RL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States. Electronic address: rbeer2@jhmi.edu., Parsons MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States; Department of Surgery, Johns Hopkins University, Baltimore, MD, United States., Rovira M; Genomic Programming of Beta-Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi i Sunyer, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain. Electronic address: merovira@clinic.ub.es.

Publikováno v: Developmental biology [Dev Biol] 2016 May 01; Vol. 413 (1), pp. 8-15. Date of Electronic Publication: 2016 Mar 08.

Retinoic acid plays an evolutionarily conserved and biphasic role in pancreas development.

Autor: Huang W; Department of Surgery, and McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, 470 Miller Research Building, Baltimore, MD 21205, USA., Wang G; Department of Surgery, and McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, 470 Miller Research Building, Baltimore, MD 21205, USA., Delaspre F; Department of Surgery, and McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, 470 Miller Research Building, Baltimore, MD 21205, USA., Vitery Mdel C; Department of Surgery, and McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, 470 Miller Research Building, Baltimore, MD 21205, USA., Beer RL; Department of Surgery, and McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, 470 Miller Research Building, Baltimore, MD 21205, USA., Parsons MJ; Department of Surgery, and McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, 470 Miller Research Building, Baltimore, MD 21205, USA.

Publikováno v: Developmental biology [Dev Biol] 2014 Oct 01; Vol. 394 (1), pp. 83-93. Date of Electronic Publication: 2014 Aug 13.