Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

• Madeline H. Kowalski ,

  Contributed equally to this work with: Madeline H. Kowalski, Huijun Qian

  Roles Formal analysis, Writing – original draft, Writing – review & editing

  Affiliation Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0002-5655-7620

  ⨯
• Huijun Qian ,

  Contributed equally to this work with: Madeline H. Kowalski, Huijun Qian

  Roles Formal analysis, Writing – original draft, Writing – review & editing

  Affiliation Department of Statistics and Operation Research, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0002-8171-1378

  ⨯
• Ziyi Hou,

  Roles Formal analysis, Writing – review & editing

  Affiliation Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America

  ⨯
• Jonathan D. Rosen,

  Roles Formal analysis, Writing – review & editing

  Affiliation Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0001-6396-4219

  ⨯
• Amanda L. Tapia,

  Roles Formal analysis, Writing – review & editing

  Affiliation Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0001-7348-7372

  ⨯
• Yue Shan,

  Roles Formal analysis, Writing – review & editing

  Affiliation Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America

  ⨯
• Deepti Jain,

  Roles Formal analysis, Resources, Writing – review & editing

  Affiliation Department of Biostatistics, University of Washington, Seattle, Washington, United States of America

  ⨯
• Maria Argos,

  Roles Resources, Writing – review & editing

  Affiliation Division of Epidemiology and Biostatistics, University of Illinois at Chicago, Chicago, Illinois, United States of America

  http://orcid.org/0000-0003-4234-252X

  ⨯
• Donna K. Arnett,

  Roles Resources, Writing – review & editing

  Affiliation College of Public Health, University of Kentucky, Lexington, Kentucky, United States of America

  http://orcid.org/0000-0003-2219-657X

  ⨯
• Christy Avery,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, United States of America

  ⨯
• Kathleen C. Barnes,

  Roles Resources, Writing – review & editing

  Affiliation Department of Medicine, Anschutz Medical Campus, University of Colorado Denver, Aurora, Colorado, United States of America

  ⨯
• Lewis C. Becker,

  Roles Resources, Writing – review & editing

  Affiliation GeneSTAR Research Program, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

  ⨯
• Stephanie A. Bien,

  Roles Resources, Writing – review & editing

  Affiliation Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

  http://orcid.org/0000-0002-8713-4583

  ⨯
• Joshua C. Bis,

  Roles Resources, Writing – review & editing

  Affiliation Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America

  ⨯
• John Blangero,

  Roles Resources, Writing – review & editing

  Affiliation Department of Human Genetics and South Texas Diabetes Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, Texas, United States of America

  ⨯
• Eric Boerwinkle,

  Roles Resources, Writing – review & editing

  Affiliations Human Genome Sequencing Center, University of Texas Health Science Center at Houston; Baylor College of Medicine, Houston, Texas, United States of America, Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America

  ⨯
• Donald W. Bowden,

  Roles Resources, Writing – review & editing

  Affiliation Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America

  http://orcid.org/0000-0003-4861-8005

  ⨯
• Steve Buyske,

  Roles Resources, Writing – review & editing

  Affiliation Department of Statistics, Rutgers University, Piscataway, New Jersey, United States of America

  http://orcid.org/0000-0001-8539-5416

  ⨯
• Jianwen Cai,

  Roles Resources, Writing – review & editing

  Affiliation Collaborative Studies Coordinating Center, Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0002-4945-6733

  ⨯
• Michael H. Cho,

  Roles Resources, Writing – review & editing

  Affiliations Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America

  ⨯
• Seung Hoan Choi,

  Roles Resources, Writing – review & editing

  Affiliation Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America

  ⨯
• Hélène Choquet,

  Roles Resources, Writing – review & editing

  Affiliation Division of Research, Kaiser Permanente Northern California, Oakland, California, United States of America

  ⨯
• L. Adrienne Cupples,

  Roles Resources, Writing – review & editing

  Affiliations Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America, Framingham Heart Study, Framingham, Massachusetts, United States of America

  ⨯
• Mary Cushman,

  Roles Resources, Writing – review & editing

  Affiliation Departments of Medicine & Pathology, Larner College of Medicine, University of Vermont, Colchester, Vermont, United States of America

  ⨯
• Michelle Daya,

  Roles Resources, Writing – review & editing

  Affiliation Department of Medicine, Anschutz Medical Campus, University of Colorado Denver, Aurora, Colorado, United States of America

  ⨯
• Paul S. de Vries,

  Roles Resources, Writing – review & editing

  Affiliation Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America

  ⨯
• Patrick T. Ellinor,

  Roles Resources, Writing – review & editing

  Affiliations Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America, Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, United States of America

  ⨯
• Nauder Faraday,

  Roles Resources, Writing – review & editing

  Affiliation GeneSTAR Research Program, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

  ⨯
• Myriam Fornage,

  Roles Resources, Writing – review & editing

  Affiliation School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States of America

  ⨯
• Stacey Gabriel,

  Roles Resources, Writing – review & editing

  Affiliation Genomics Platform, Broad Institute, Cambridge, Massachusetts, United States of America

  ⨯
• Santhi K. Ganesh,

  Roles Resources, Writing – review & editing

  Affiliations Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, United States of America, Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America

  ⨯
• Misa Graff,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0001-6380-1735

  ⨯
• Namrata Gupta,

  Roles Resources, Writing – review & editing

  Affiliation Genomics Platform, Broad Institute, Cambridge, Massachusetts, United States of America

  ⨯
• Jiang He,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, Los Angeles, United States of America

  ⨯
• Susan R. Heckbert,

  Roles Resources, Writing – review & editing

  Affiliations Department of Epidemiology, University of Washington, Seattle, Washington, United States of America, Kaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington, Seattle, Washington, United States of America

  http://orcid.org/0000-0002-7100-512X

  ⨯
• Bertha Hidalgo,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, Ryals School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America

  ⨯
• Chani J. Hodonsky,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, United States of America

  ⨯
• Marguerite R. Irvin,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, Ryals School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America

  ⨯
• Andrew D. Johnson,

  Roles Resources, Writing – review & editing

  Affiliations Framingham Heart Study, Framingham, Massachusetts, United States of America, Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, Massachusetts, United States of America

  ⨯
• Eric Jorgenson,

  Roles Resources, Writing – review & editing

  Affiliation Division of Research, Kaiser Permanente Northern California, Oakland, California, United States of America

  ⨯
• Robert Kaplan,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, New York, United States of America

  ⨯
• Sharon L. R. Kardia,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America

  ⨯
• Tanika N. Kelly,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, Los Angeles, United States of America

  http://orcid.org/0000-0002-7348-4451

  ⨯
• Charles Kooperberg,

  Roles Resources, Writing – review & editing

  Affiliation Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

  ⨯
• Jessica A. Lasky-Su,

  Roles Resources, Writing – review & editing

  Affiliations Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America

  ⨯
• Ruth J. F. Loos,

  Roles Resources, Writing – review & editing

  Affiliations The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America, The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

  http://orcid.org/0000-0002-8532-5087

  ⨯
• Steven A. Lubitz,

  Roles Resources, Writing – review & editing

  Affiliations Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America, Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, United States of America

  http://orcid.org/0000-0002-9599-4866

  ⨯
• Rasika A. Mathias,

  Roles Resources, Writing – review & editing

  Affiliation GeneSTAR Research Program, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

  ⨯
• Caitlin P. McHugh,

  Roles Resources, Writing – review & editing

  Affiliation Department of Biostatistics, University of Washington, Seattle, Washington, United States of America

  http://orcid.org/0000-0003-2341-4612

  ⨯
• Courtney Montgomery,

  Roles Resources, Writing – review & editing

  Affiliation Department of Genes and Human Disease, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, United States of America

  ⨯
• Jee-Young Moon,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, New York, United States of America

  http://orcid.org/0000-0001-9218-8335

  ⨯
• Alanna C. Morrison,

  Roles Resources, Writing – review & editing

  Affiliation Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America

  ⨯
• Nicholette D. Palmer,

  Roles Resources, Writing – review & editing

  Affiliation Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America

  http://orcid.org/0000-0001-8883-2511

  ⨯
• Nathan Pankratz,

  Roles Resources, Writing – review & editing

  Affiliation Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, United States of America

  ⨯
• George J. Papanicolaou,

  Roles Resources, Writing – review & editing

  Affiliation National Heart, Lung, and Blood Institute, Division of Cardiovascular Sciences, PPSP/EB, NIH, Bethesda, Maryland, United States of America

  ⨯
• Juan M. Peralta,

  Roles Resources, Writing – review & editing

  Affiliation Department of Human Genetics and South Texas Diabetes Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, Texas, United States of America

  ⨯
• Patricia A. Peyser,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America

  http://orcid.org/0000-0002-9717-8459

  ⨯
• Stephen S. Rich,

  Roles Resources, Writing – review & editing

  Affiliation Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, United States of America

  ⨯
• Jerome I. Rotter,

  Roles Resources, Writing – review & editing

  Affiliation The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America

  http://orcid.org/0000-0001-7191-1723

  ⨯
• Edwin K. Silverman,

  Roles Resources, Writing – review & editing

  Affiliations Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America

  ⨯
• Jennifer A. Smith,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America

  http://orcid.org/0000-0002-3575-5468

  ⨯
• Nicholas L. Smith,

  Roles Resources, Writing – review & editing

  Affiliations Department of Epidemiology, University of Washington, Seattle, Washington, United States of America, Kaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington, Seattle, Washington, United States of America, Seattle Epidemiologic Research and Information Center, Department of Veterans Affairs Office of Research and Development, Seattle, Washington, United States of America

  ⨯
• Kent D. Taylor,

  Roles Resources, Writing – review & editing

  Affiliation The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America

  http://orcid.org/0000-0002-2756-4370

  ⨯
• Timothy A. Thornton,

  Roles Resources, Writing – review & editing

  Affiliation Department of Biostatistics, University of Washington, Seattle, Washington, United States of America

  http://orcid.org/0000-0001-7071-2642

  ⨯
• Hemant K. Tiwari,

  Roles Resources, Writing – review & editing

  Affiliation Department of Biostatistics, Ryals School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama, United States of America

  ⨯
• Russell P. Tracy,

  Roles Resources, Writing – review & editing

  Affiliation Departments of Pathology & Laboratory Medicine and Biochemistry, Larrner College of Medicine, University of Vermont, Colchester, Vermont, United States of America

  ⨯
• Tao Wang,

  Roles Resources, Writing – review & editing

  Affiliation Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York, United States of America

  http://orcid.org/0000-0003-0581-1251

  ⨯
• Scott T. Weiss,

  Roles Resources, Writing – review & editing

  Affiliations Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America

  http://orcid.org/0000-0001-7196-303X

  ⨯
• Lu-Chen Weng,

  Roles Resources, Writing – review & editing

  Affiliation Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America

  ⨯
• Kerri L. Wiggins,

  Roles Resources, Writing – review & editing

  Affiliation Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America

  http://orcid.org/0000-0003-2749-1279

  ⨯
• James G. Wilson,

  Roles Resources, Writing – review & editing

  Affiliation Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, United States of America

  http://orcid.org/0000-0002-2676-8793

  ⨯
• Lisa R. Yanek,

  Roles Resources, Writing – review & editing

  Affiliation GeneSTAR Research Program, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

  http://orcid.org/0000-0001-7117-1075

  ⨯
• Sebastian Zöllner,

  Roles Resources, Writing – review & editing

  Affiliations Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America, Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, United States of America

  ⨯
• Kari E. North,

  Roles Resources, Writing – review & editing

  Affiliations Department of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, United States of America, Carolina Center of Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America

  ⨯
• Paul L. Auer,

  Roles Resources, Writing – review & editing

  Affiliation Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, United States of America

  ⨯
• NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium ,

  ¶¶ Membership in Trans-Omics for Precision Medicine Consortium and the Hematology & Hemostasis Working Group are listed in supplemental files.

  ⨯
• TOPMed Hematology & Hemostasis Working Group ,

  ¶¶ Membership in Trans-Omics for Precision Medicine Consortium and the Hematology & Hemostasis Working Group are listed in supplemental files.

  ⨯
• Laura M. Raffield ,

  Roles Conceptualization, Project administration, Resources, Writing – original draft, Writing – review & editing

  ¶^‡ LMR, APR and YL also contributed equally to this work.

  Affiliation Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0002-7892-193X

  ⨯
• Alexander P. Reiner ,

  Roles Conceptualization, Project administration, Resources, Writing – original draft, Writing – review & editing

  ¶^‡ LMR, APR and YL also contributed equally to this work.

  Affiliation Department of Epidemiology, University of Washington, Seattle, Washington, United States of America

  http://orcid.org/0000-0002-1427-4470

  ⨯
•  [ ... ],
• Yun Li

  Roles Conceptualization, Funding acquisition, Project administration, Resources, Writing – original draft, Writing – review & editing

  * E-mail: yunli@med.unc.edu

  ¶^‡ LMR, APR and YL also contributed equally to this work.

  Affiliations Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, United States of America, Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, United States of America, Department of Computer Science, University of North Carolina, Chapel Hill, North Carolina, United States of America

  http://orcid.org/0000-0002-9275-4189

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