Nature

, volume 590 , issue 7845 , pages 290-299

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

Daniel Taliun ^{1, 2}

Daniel N Harris ^{3, 4, 5}

Michael D. Kessler ^{6, 7}

Jedidiah Carlson ^{8, 9}

Zachary A Szpiech ¹⁰

Raúl Torres ^{1, 2}

Sarah A. Gagliano Taliun ¹¹

André Corvelo ¹²

Stephanie M. Gogarten ^{1, 2}

Hyun Min Kang ¹³

Achilleas N. Pitsillides ^{1, 2}

Jonathon LeFaive ⁷

Seung-been Lee ¹²

Xiaowen Tian ¹⁴

Brian L Browning ^{1, 2}

Sayantan Das ¹¹

Anne-Katrin Emde ¹¹

Wayne E. Clarke ^{3, 4, 5}

Douglas P Loesch ^{3, 4, 5}

Amol Shetty ^{1, 2}

Thomas W Blackwell ^{1, 2}

Albert B. Smith ¹²

Quenna Wong ¹⁵

Xiaoming Liu ¹²

Matthew P. Conomos ¹⁶

Dean M Bobo ¹⁷

François Aguet ¹⁸

Christine Albert ¹⁹

Alvaro Alonso ¹⁷

Kristin G. Ardlie ²⁰

Dan E Arking ²¹

Stella Aslibekyan ²²

Paul L. Auer ²³

John Barnard ^{24, 25}

R. Graham Barr ²⁶

Lucas Barwick ²⁷

LEWIS C. BECKER ²⁸

Rebecca L Beer ^{29, 30, 31}

Emelia J. Benjamin ³²

Lawrence F. Bielak ^{33, 34}

John Blangero ^{1, 2}

Michael Boehnke ³⁵

Donald W Bowden ^{36, 37}

Jennifer A. Brody ^{38, 39}

Esteban G. Burchard ^{40, 41}

Brian E. Cade ^{42, 43}

James F. Casella ⁴⁴

Brandon Chalazan ^{45, 46}

Daniel I. Chasman ⁴⁷

Yii-Der Ida Chen ⁴⁸

Michael H. Cho ¹⁷

Seung-Hoan Choi ^{49, 50, 51}

Mina K. Chung ⁵²

Clary B. Clish ^{53, 54, 55}

Adolfo Correa ^{33, 34}

Joanne E Curran ^{56, 57}

Brian Custer ⁵⁸

Dawood Darbar ⁵⁹

Michelle Daya ⁶⁰

Mariza de Andrade ⁴⁸

Dawn L. DeMeo ^{61, 62}

Susan K. Dutcher ⁶³

Patrick T Ellinor ¹²

Leslie S Emery ³⁹

Celeste Eng ^{64, 65, 66}

Diane Fatkin ⁶⁷

Tasha Fingerlin ⁶⁸

Lukas Forer ⁶⁹

Myriam Fornage ⁷⁰

Nora Franceschini ^{1, 2, 68, 71}

Christian Fuchsberger ⁷²

Stephanie M. Fullerton ¹¹

Soren Germer ^{73, 74, 75}

Mark T. Gladwin ^{76, 77}

Daniel J. Gottlieb ⁴⁷

Xiuqing Guo ⁵³

Michael E Hall ^{78, 79}

He Jiang ^{31, 80}

Nancy L. Heard-Costa ^{37, 81}

Susan R. Heckbert ⁸²

Marguerite R Irvin ^{36, 83}

Jill M. Johnsen ^{31, 84}

Andrew D. Johnson ⁸⁵

Robert Kaplan ³²

Sharon L. R. Kardia ⁷⁸

Tanika Kelly ^{86, 87, 88}

Shannon Kelly ¹⁶

Eimear E. Kenny ^{17, 40, 89, 90}

Douglas P. Kiel ^{1, 2}

Robert Klemmer ^{36, 83}

Barbara A. Konkle ⁹¹

Charles Kooperberg ^{92, 93}

Anna Köttgen ⁹⁴

Leslie A Lange ^{40, 41, 48, 95}

Jessica Lasky-Su ^{29, 31, 84}

Daniel Levy ⁹⁶

Xihong Lin ^{1, 2}

Keng-Han Lin ¹³

Chunyu Liu ^{97, 98}

Ruth J.F. Loos ⁹⁹

Lori Garman ¹⁰⁰

Robert Gerszten ¹⁸

Steven A. Lubitz ¹³

Kathryn L. Lunetta ³⁹

Angel C Y Mak ^{101, 102}

Ani Manichaikul ^{40, 103, 104}

Alisa K Manning ¹⁰⁵

Rasika A. Mathias ¹⁰⁶

David D McManus ^{107, 108, 109}

Stephen T. McGarvey ¹¹⁰

James B. Meigs ¹¹¹

Deborah A. Meyers ²⁸

Julie L Mikulla ²⁸

Mollie A. Minear ^{4, 5, 112}

Braxton D Mitchell ^{113, 114}

Sanghamitra Mohanty ^{4, 5}

May E. Montasser ⁹⁹

Courtney Montgomery ¹¹⁵

Alanna C. Morrison ²⁹

Joanne M. Murabito ¹¹³

Andrea Natale ^{40, 63, 116, 117}

Pradeep Natarajan ¹²

Sarah C Nelson ⁷⁰

Kari E. North ^{4, 5}

Jeffrey R O'Connell ³⁵

Nicholette D. Palmer ¹¹⁸

Nathan Pankratz ¹³

Gina M. Peloso ³²

Patricia A. Peyser ^{1, 2}

Jacob Pleiness ¹¹⁹

Wendy S. Post ^{36, 37, 81, 120, 121}

Bruce M. Psaty ¹²²

D C Rao ^{40, 41}

Susan Redline ^{81, 91}

Alexander P Reiner ¹²³

Dan Roden ⁴⁷

Jerome I. Rotter ¹²⁴

Ingo Ruczinski ¹³

Chloé Sarnowski ⁶⁸

Sebastian Schoenherr ¹²⁵

David A. Schwartz ^{126, 127, 128}

Jeong-Sun Seo ^{31, 129}

Sudha Seshadri ^{130, 131}

Vivien A. Sheehan ¹³²

Wayne H. Sheu ¹²³

M. Benjamin Shoemaker ^{81, 121, 133}

Nicholas L Smith ^{32, 134}

Jennifer A Smith ³⁷

Nona Sotoodehnia ¹²

Adrienne M. Stilp ¹³⁵

Weihong Tang ⁴⁷

Kent D. Taylor ¹³⁶

Marilyn Telen ¹²

Timothy A. Thornton ¹³⁷

Russell P Tracy ¹³⁸

David J Van Den Berg ^{29, 31}

Ramachandran S Vasan ¹³⁹

Karine A. Viaud-Martinez ¹⁴⁰

Scott Vrieze ^{141, 142}

Daniel E. Weeks ¹²

Bruce S. Weir ^{40, 41, 48, 95}

Scott T. Weiss ¹⁸

Lu-Chen Weng ^{6, 143, 144}

Cristen J. Willer ^{73, 74, 75}

Yingze Zhang ^{1, 2}

Xutong Zhao ¹⁴⁵

Donna K Arnett ¹⁴⁶

Allison E. Ashley-Koch ⁵⁹

Kathleen C Barnes ^{147, 148}

Eric Boerwinkle ¹⁷

Stacey Gabriel ¹⁴⁸

RICHARD GIBBS ¹²

Kenneth M Rice ^{101, 102}

Stephen S Rich ⁴⁸

Edwin K. Silverman ²⁸

Pankaj Qasba ²⁸

Weiniu Gan ²⁸

George J. Papanicolaou ^{7, 149, 150}

Deborah A. Nickerson ¹²

S. Browning ¹¹

Michael C. Zody ^{1, 2, 151}

Sebastian Zöllner ¹⁵²

James G Wilson ^{13, 31}

L A Cupples ¹²

Cathy C Laurie ²⁸

Cashell E. Jaquish ^{38, 153, 154, 155, 156}

Ryan D. Hernandez ^{3, 4, 5}

Timothy D. O’Connor ¹

Hide authors affiliations Show authors affiliations: 156 affiliations

Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, USA |

Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, USA |

Institute For Genome Sciences, University of Maryland School of Medicine, Baltimore, USA |

⁴

Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, USA |

⁵

Department of Medicine, University Of Maryland School of Medicine, Baltimore, USA |

⁶

Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, USA |

⁷

Department of Genome Sciences, University of Washington, Seattle, USA |

⁸

Department of Biology, Pennsylvania State University, University Park, USA |

⁹

Institute for Computational and Data Sciences, Pennsylvania State University, University Park, USA |

¹⁰

Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, USA |

¹¹

New York Genome Center, New York, USA |

¹²

Department of Biostatistics, University of Washington, Seattle, USA |

¹³

Department of biostatistics, Boston University School of Public Health, Boston, USA |

¹⁴

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, USA |

¹⁵

USF Genomics, College of Public Health, University of South Florida, Tampa, USA |

¹⁶

Icahn school of medicine at Mount Sinai, New York, USA |

¹⁷

the Broad Institute of MIT and Harvard, Cambridge, USA |

¹⁸

Massachusetts General Hospital, Boston, USA |

¹⁹

Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, USA |

²⁰

McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA |

²¹

University of Alabama, Birmingham, USA |

²²

Zilber School of Public Health, University of Wisconsin Milwaukee, Milwaukee, USA |

²³

Cleveland Clinic, Cleveland, USA |

²⁴

Department of Medicine, Columbia University Medical Center, New York, USA |

²⁵

Department of Epidemiology, Columbia University Medical Center, New York, USA |

²⁶

The EMMES Corporation, Rockville, USA |

²⁷

Johns Hopkins University, Baltimore, USA |

²⁸

National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, USA |

²⁹

Department of Medicine, Boston University School of Medicine, Boston, USA |

³⁰

Department of Epidemiology, Boston University School of Public Health, Boston, USA |

³¹

Framingham Heart Study, Framingham, USA |

³²

Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, USA |

³³

Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, USA |

³⁴

South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, USA |

³⁵

Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, USA |

³⁶

Department of Medicine, University of Washington, Seattle, USA |

³⁷

Cardiovascular Health Research Unit, University of Washington, Seattle, USA |

³⁸

Department of Bioengineering and Therapeutic sciences, University of California, San Francisco, San Francisco, USA |

³⁹

Department of Medicine, University of California, San Francisco, San Francisco, USA |

⁴⁰

Department of medicine, Harvard Medical School, Boston, USA |

⁴¹

Department Of Medicine, Brigham and Women’s Hospital, Boston, USA |

⁴²

Department of Pediatrics, Johns Hopkins University, Baltimore, USA |

⁴³

Division of Pediatric Hematology, Johns Hopkins University, Baltimore, USA |

⁴⁴

Department of Medical Genetics, University of British Columbia, Vancouver, CANADA |

⁴⁵

Division of Preventive Medicine, Brigham and Women’s Hospital, Boston, USA |

⁴⁶

HARVARD Medical school, Boston, USA |

⁴⁷

The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, USA |

⁴⁸

Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital, Boston, USA |

⁴⁹

Department of Cardiovascular Medicine, Heart & Vascular Institute, Cleveland Clinic, Cleveland, USA |

⁵⁰

Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, USA |

⁵¹

Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, USA

Case Western Reserve University

Cleveland Clinic Lerner College of Medicine

⁵²

Metabolomics Platform, The Broad Institute of MIT and Harvard, Cambridge, USA |

⁵³

Department of Medicine, University of Mississippi Medical Center, Jackson, USA |

⁵⁴

Department of Pediatrics, University of Mississippi Medical Center, Jackson, USA |

⁵⁵

Department of Population Health Science, University of Mississippi Medical Center, Jackson, USA |

⁵⁶

Vitalant Research Institute, San Francisco, USA |

⁵⁷

Department of Laboratory Medicine, University of California, San Francisco, San Francisco, USA |

⁵⁸

Department of Medicine, University of Illinois at Chicago, Chicago, USA |

⁵⁹

Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, USA |

⁶⁰

MAYO CLINIC, Rochester, USA |

⁶¹

McDonnell Genome Institute, Washington University, St Louis, USA |

⁶²

Department of Genetics, Washington University, St Louis, USA |

⁶³

Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, USA |

⁶⁴

Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Darlinghurst, Australia |

⁶⁵

Faculty of Medicine, University of New South Wales, Kensington, Australia |

⁶⁶

Cardiology Department, St Vincent’s Hospital, Darlinghurst, Australia |

⁶⁷

National Jewish Health, Center for Genes, Environment and Health, Denver, USA |

⁶⁸

Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria |

⁶⁹

Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, USA |

⁷⁰

Department of Epidemiology, University of North Carolina, Chapel hill, USA |

⁷¹

Institute for Biomedicine, EURAC Research, Bolzano, Italy |

⁷²

Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, USA |

⁷³

Pittsburgh Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, USA |

⁷⁴

Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh, Pittsburgh, USA |

⁷⁵

Department of Medicine, University of Pittsburgh, Pittsburgh, USA |

⁷⁶

VA Boston HealthCare System, Boston, USA |

⁷⁷

Division of Sleep and Circadian Disorders, Brigham and Women’s Hospital, Boston, USA |

⁷⁸

Department of Epidemiology, Tulane University, New Orleans, USA |

⁷⁹

Tulane University Translational Science Institute, Tulane University, New Orleans, USA |

⁸⁰

Department of Neurology, Boston university School of Medicine, Boston, USA |

⁸¹

Department of Epidemiology, University of Washington, Seattle, USA |

⁸²

Department of Epidemiology, University of Alabama At Birmingham, Birmingham, USA |

⁸³

BloodWorks Northwest Research Institute, Seattle, USA |

⁸⁴

Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, USA |

⁸⁵

albert Einstein College of Medicine, New York, USA |

⁸⁶

Department of Epidemiology, Vitalant Research Institute, San Francisco, USA |

⁸⁷

Department of Pediatrics, UCSF Benioff Children’s Hospital, Oakland, USA |

⁸⁸

Division of Pediatric Hematology, UCSF Benioff Children’s Hospital, Oakland, USA |

⁸⁹

Hinda and Arthur Marcus Institute for Aging Research, Hebrew SeniorLife, Boston, USA |

⁹⁰

Department of Medicine, Beth Israel Deaconess Medical Center, Boston, USA |

⁹¹

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, USA |

⁹²

Department of Epidemiology, Johns Hopkins University, Baltimore, USA |

⁹³

Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany |

⁹⁴

Department of Medicine, University of Colorado at Denver, Aurora, USA |

⁹⁵

Brigham and Women’s Hospital, Boston, USA |

⁹⁶

Biostatistics and Statistics, Harvard University, Boston, USA |

⁹⁷

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, USA |

⁹⁸

The Mindich Child health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA |

⁹⁹

Department of Genes and Human Disease, Oklahoma Medical Research Foundation, Oklahoma City, USA |

¹⁰⁰

Beth Israel Deaconess medical center, Boston, USA |

¹⁰¹

Center for Public Health Genomics, University of Virginia, Charlottesville, USA |

¹⁰²

Department of Public Health Sciences, University of Virginia, Charlottesville, USA |

¹⁰³

Clinical and Translational Epidemiology Unit, Mongan Institute, Massachusetts General Hospital, Boston, USA |

¹⁰⁴

Metabolism Program, The Broad Institute of MIT and Harvard, Cambridge, USA |

¹⁰⁵

Department of Medicine, Johns Hopkins University, Baltimore, USA |

¹⁰⁶

Cardiovascular Medicine, University of Massachusetts Medical School, Worcester, USA |

¹⁰⁷

International Health Institute, Brown University, Providence, USA |

¹⁰⁸

Department of Epidemiology, Brown University, Providence, USA |

¹⁰⁹

Department of Anthropology, Brown University, Providence, USA |

¹¹⁰

Division of General Internal Medicine, Massachusetts General Hospital, Harvard Medical School, The Broad Institute of MIT and Harvard, Boston, USA

Broad Institute of MIT and Harvard

Massachusetts General Hospital

¹¹¹

University of Arizona, Tucson, USA |

¹¹²

Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, USA |

¹¹³

Texas Cardiac Arrhythmia Institute, St David’s Medical Center, Austin, USA |

¹¹⁴

Department of Internal Medicine, Dell Medical School, Austin, USA |

¹¹⁵

Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, USA |

¹¹⁶

Cardiovascular Research Center, Massachusetts General Hospital, Boston, USA |

¹¹⁷

Center for Genomic Medicine, Massachusetts General Hospital, Boston, USA |

¹¹⁸

Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, USA |

¹¹⁹

Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, USA |

¹²⁰

Department of Health Services, University of Washington, Seattle, USA |

¹²¹

Kaiser Permanente Washington Health Research Institute, Seattle, USA |

¹²²

Division of Biostatistics, Washington University in St Louis, St Louis, USA |

¹²³

Vanderbilt University Medical Center, Nashville, USA |

¹²⁴

Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, USA |

¹²⁵

University of Colorado at Denver, Denver, USA |

¹²⁶

Precision Medicine Center, Seoul National University Bundang Hospital, Seongnam, Republic of Korea |

¹²⁷

Macrogen Inc, Seoul, Republic of Korea |

¹²⁸

Gong Wu Genomic Medicine Institute, Seoul National University Bundang Hospital, Seongnam, Republic of Korea |

¹²⁹

Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases, University of Texas Health Sciences Center at San Antonio, San Antonio, USA |

¹³⁰

Department of Pediatrics, Emory University School of Medicine, Atlanta, USA |

¹³¹

AFLAC Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, Atlanta, USA |

¹³²

Taichung Veterans General Hospital Taiwan, Taichung City, Taiwan |

¹³³

Seattle Epidemiologic Research and Information Center, Department of Veterans Affairs Office of Research and Development, Seattle, USA |

¹³⁴

Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, USA |

¹³⁵

Division of Epidemiology and Community Health, School of Public health, University of Minnesota, Minneapolis, USA |

¹³⁶

Duke university, Durham, USA |

¹³⁷

Department of Pathology & Laboratory Medicine, University of Vermont Larner College of Medicine, Burlington, USA |

¹³⁸

Center for Genetic Epidemiology, Department of Preventive Medicine, University of Southern California, Los Angeles, USA |

¹³⁹

Illumina Laboratory Services, Illumina Inc, San Diego, USA |

¹⁴⁰

Department of Psychology, University of Minnesota, Minneapolis, USA |

¹⁴¹

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, USA |

¹⁴²

Department of Biostatistics, Graduate school of Public Health, University of Pittsburgh, Pittsburgh, USA |

¹⁴³

Department of Internal Medicine-Cardiology, University of Michigan, Ann Arbor, USA |

¹⁴⁴

Department of Human Genetics, University of Michigan, Ann Arbor, USA |

¹⁴⁵

Department of Epidemiology, University of Kentucky, Lexington, USA |

¹⁴⁶

Duke Molecular Physiology Institute, Duke University Medical Center, Durham, USA |

¹⁴⁷

University of Texas Health Science Center At Houston, Houston, USA |

¹⁴⁸

Baylor College of Medicine Human Genome Sequencing Center, Houston, USA |

¹⁴⁹

Northwest Genomics Center, Seattle, USA |

¹⁵⁰

Brotman Baty Institute, Seattle, USA |

¹⁵¹

Department of Psychiatry, University of Michigan, Ann Arbor, USA |

¹⁵²

Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, USA |

¹⁵³

Department of human genetics, McGill University, Montreal, Canada |

¹⁵⁴

Quantitative Biosciences Institute, University of California, San Francisco, San Francisco, USA |

¹⁵⁵

Institute for Human Genetics, University of California, San Francisco, San Francisco, USA |

¹⁵⁶

Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, USA |

Publication type: Journal Article

Publication date: 2021-02-10

Springer Nature

Nature

scimago Q1

wos Q1

SJR: 18.288

CiteScore: 78.1

Impact factor: 48.5

ISSN: 00280836, 14764687

DOI: 10.1038/s41586-021-03205-y

Copy DOI

PubMed ID: 33568819

Multidisciplinary

Abstract

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%. The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

Found

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Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency

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Groves Andrew

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Saint Petersburg State University

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Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency

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GOST Copy

Taliun D. et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program // Nature. 2021. Vol. 590. No. 7845. pp. 290-299.

GOST all authors (up to 50) Copy

Taliun D. et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program // Nature. 2021. Vol. 590. No. 7845. pp. 290-299.

RIS |

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RIS

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BibTex (up to 50 authors) Copy

@article{2021_Taliun,

author = {Daniel Taliun and Daniel N Harris and Michael D. Kessler and Jedidiah Carlson and Zachary A Szpiech and Raúl Torres and Sarah A. Gagliano Taliun and André Corvelo and Stephanie M. Gogarten and Hyun Min Kang and Achilleas N. Pitsillides and Jonathon LeFaive and Seung-been Lee and Xiaowen Tian and Brian L Browning and Sayantan Das and Anne-Katrin Emde and Wayne E. Clarke and Douglas P Loesch and Amol Shetty and Thomas W Blackwell and Albert B. Smith and Quenna Wong and Xiaoming Liu and Matthew P. Conomos and Dean M Bobo and François Aguet and Christine Albert and Alvaro Alonso and Kristin G. Ardlie and Dan E Arking and Stella Aslibekyan and Paul L. Auer and John Barnard and R. Graham Barr and Lucas Barwick and LEWIS C. BECKER and Rebecca L Beer and Emelia J. Benjamin and Lawrence F. Bielak and John Blangero and Michael Boehnke and Donald W Bowden and Jennifer A. Brody and Esteban G. Burchard and Brian E. Cade and James F. Casella and Brandon Chalazan and Daniel I. Chasman and Yii-Der Ida Chen and others},

title = {Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program},

journal = {Nature},

year = {2021},

volume = {590},

publisher = {Springer Nature},

month = {feb},

url = {https://doi.org/10.1038/s41586-021-03205-y},

number = {7845},

pages = {290--299},

doi = {10.1038/s41586-021-03205-y}

}

MLA

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MLA Copy

Taliun, Daniel, et al. “Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.” Nature, vol. 590, no. 7845, Feb. 2021, pp. 290-299. https://doi.org/10.1038/s41586-021-03205-y.

Publisher

Springer Nature

Journal

Nature

scimago Q1

wos Q1

SJR

18.288

CiteScore

78.1

Impact factor

48.5

ISSN

00280836 (Print)

14764687 (Electronic)