دورية أكاديمية
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
| العنوان: | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. |
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| المؤلفون: | 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. |
| مؤلفون مشاركون: | NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium |
| المصدر: | Nature [Nature] 2021 Feb; Vol. 590 (7845), pp. 290-299. Date of Electronic Publication: 2021 Feb 10. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Basingstoke : Nature Publishing Group Original Publication: London, Macmillan Journals ltd. |
| مواضيع طبية MeSH: | Genomics* , National Heart, Lung, and Blood Institute (U.S.)* , Precision Medicine*/standards, Genetic Variation/*genetics , Genome, Human/*genetics, Cytochrome P-450 CYP2D6/genetics ; Haplotypes/genetics ; Heterozygote ; Humans ; INDEL Mutation ; Loss of Function Mutation ; Mutagenesis ; Phenotype ; Polymorphism, Single Nucleotide ; Population Density ; Quality Control ; Sample Size ; United States ; Whole Genome Sequencing/standards |
| مستخلص: | The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes) 1 . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These rare variants provide insights into mutational processes and recent human evolutionary history. The extensive catalogue of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and noncoding sequence variants to phenotypic variation. Furthermore, combining TOPMed haplotypes with modern imputation methods improves the power and reach of genome-wide association studies to include variants down to a frequency of approximately 0.01%. |
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| معلومات مُعتمدة: | R35 HG010692 United States HG NHGRI NIH HHS; P30 ES010126 United States ES NIEHS NIH HHS; P50 HL118006 United States HL NHLBI NIH HHS; T32 HG000040 United States HG NHGRI NIH HHS; R01 HL090620 United States HL NHLBI NIH HHS; K08 HL141601 United States HL NHLBI NIH HHS; K24 HL148521 United States HL NHLBI NIH HHS; R01 HL111314 United States HL NHLBI NIH HHS; R01 AI132476 United States AI NIAID NIH HHS; R01 HL117626 United States HL NHLBI NIH HHS; R01 HL131565 United States HL NHLBI NIH HHS; P01 HL132825 United States HL NHLBI NIH HHS; R01 DA044283 United States DA NIDA NIH HHS; R01 HL123915 United States HL NHLBI NIH HHS; R01 HL120393 United States HL NHLBI NIH HHS; R03 HL141439 United States HL NHLBI NIH HHS; K01 AG059898 United States AG NIA NIH HHS; R01 HL155742 United States HL NHLBI NIH HHS; U01 HL120393 United States HL NHLBI NIH HHS; R01 DK117445 United States DK NIDDK NIH HHS; UH3 HL151865 United States HL NHLBI NIH HHS; R01 HL163972 United States HL NHLBI NIH HHS; R01 AR072199 United States AR NIAMS NIH HHS; R01 HL142711 United States HL NHLBI NIH HHS; I01 BX005295 United States BX BLRD VA; R01 HL113326 United States HL NHLBI NIH HHS; U01 HL137162 United States HL NHLBI NIH HHS; R01 HG005701 United States HG NHGRI NIH HHS; R01 GM075091 United States GM NIGMS NIH HHS; T32 HL007085 United States HL NHLBI NIH HHS; R01 DA037904 United States DA NIDA NIH HHS; R21 HL123677 United States HL NHLBI NIH HHS; P30 DK020572 United States DK NIDDK NIH HHS; R03 HL154284 United States HL NHLBI NIH HHS; R01 MD012765 United States MD NIMHD NIH HHS; U01 HG009088 United States HG NHGRI NIH HHS; UM1 DK078616 United States DK NIDDK NIH HHS; UG3 HL151865 United States HL NHLBI NIH HHS; U01 CA182913 United States CA NCI NIH HHS; T32 CA154274 United States CA NCI NIH HHS; R01 HL149836 United States HL NHLBI NIH HHS; K01 HL135405 United States HL NHLBI NIH HHS |
| فهرسة مساهمة: | Investigator: N Abe; L Almasy; S Ament; P Anderson; P Anugu; D Applebaum-Bowden; T Assimes; D Avramopoulos; E Barron-Casella; T Beaty; G Beck; D Becker; A Beitelshees; T Benos; M Bezerra; J Bis; R Bowler; U Broeckel; J Broome; K Bunting; C Bustamante; E Buth; J Cardwell; V Carey; C Carty; R Casaburi; P Castaldi; M Chaffin; C Chang; YC Chang; S Chavan; BJ Chen; WM Chen; LM Chuang; RH Chung; S Comhair; E Cornell; C Crandall; J Crapo; J Curtis; C Damcott; S David; C Davis; LL Fuentes; M DeBaun; R Deka; S Devine; Q Duan; R Duggirala; JP Durda; C Eaton; L Ekunwe; A El Boueiz; S Erzurum; C Farber; M Flickinger; M Fornage; C Frazar; M Fu; L Fulton; S Gao; Y Gao; M Gass; B Gelb; XP Geng; M Geraci; A Ghosh; C Gignoux; D Glahn; DW Gong; H Goring; S Graw; D Grine; CC Gu; Y Guan; N Gupta; J Haessler; NL Hawley; B Heavner; D Herrington; C Hersh; B Hidalgo; J Hixson; B Hobbs; J Hokanson; E Hong; K Hoth; CA Hsiung; YJ Hung; H Huston; CM Hwu; R Jackson; D Jain; MA Jhun; C Johnson; R Johnston; K Jones; S Kathiresan; A Khan; W Kim; G Kinney; H Kramer; C Lange; E Lange; L Lange; C Laurie; M LeBoff; J Lee; SS Lee; WJ Lee; D Levine; J Lewis; X Li; Y Li; H Lin; H Lin; KH Lin; S Liu; Y Liu; Y Liu; J Luo; M Mahaney; B Make; J Manson; L Margolin; L Martin; S Mathai; S May; P McArdle; ML McDonald; S McFarland; D McGoldrick; C McHugh; H Mei; L Mestroni; N Min; RL Minster; M Moll; A Moscati; S Musani; S Mwasongwe; JC Mychaleckyj; G Nadkarni; R Naik; T Naseri; S Nekhai; B Neltner; H Ochs-Balcom; D Paik; J Pankow; A Parsa; JM Peralta; M Perez; J Perry; U Peters; LS Phillips; T Pollin; JP Becker; MP Boorgula; M Preuss; D Qiao; Z Qin; N Rafaels; L Raffield; L Rasmussen-Torvik; A Ratan; R Reed; E Regan; MS Reupena; C Roselli; P Russell; S Ruuska; K Ryan; EC Sabino; D Saleheen; S Salimi; S Salzberg; K Sandow; VG Sankaran; C Scheller; E Schmidt; K Schwander; F Sciurba; C Seidman; J Seidman; SL Sherman; A Shetty; WH Sheu; B Silver; J Smith; T Smith; S Smoller; B Snively; M Snyder; T Sofer; G Storm; E Streeten; YJ Sung; J Sylvia; A Szpiro; C Sztalryd; H Tang; M Taub; M Taylor; S Taylor; M Threlkeld; L Tinker; D Tirschwell; S Tishkoff; H Tiwari; C Tong; M Tsai; D Vaidya; P VandeHaar; T Walker; R Wallace; A Walts; FF Wang; H Wang; K Watson; J Wessel; K Williams; LK Williams; C Wilson; J Wu; H Xu; L Yanek; I Yang; R Yang; N Zaghloul; M Zekavat; SX Zhao; W Zhao; D Zhi; X Zhou; X Zhu |
| المشرفين على المادة: | EC 1.14.14.1 (Cytochrome P-450 CYP2D6) |
| تواريخ الأحداث: | Date Created: 20210211 Date Completed: 20210309 Latest Revision: 20240626 |
| رمز التحديث: | 20240626 |
| مُعرف محوري في PubMed: | PMC7875770 |
| DOI: | 10.1038/s41586-021-03205-y |
| PMID: | 33568819 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1476-4687 |
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| DOI: | 10.1038/s41586-021-03205-y |