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Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height

Author

Listed:
  • Gareth Hawkes

    (University of Exeter)

  • Robin N. Beaumont

    (University of Exeter)

  • Zilin Li

    (Harvard T.H. Chan School of Public Health)

  • Ravi Mandla

    (Broad Institute)

  • Xihao Li

    (University of North Carolina at Chapel Hill
    University of North Carolina at Chapel Hill)

  • Christine M. Albert

    (Cedars-Sinai Medical Center)

  • Donna K. Arnett

    (University of South Carolina)

  • Allison E. Ashley-Koch

    (Duke University Medical Center)

  • Aneel A. Ashrani

    (Mayo Clinic Rochester)

  • Kathleen C. Barnes

    (University of Colorado)

  • Eric Boerwinkle

    (The University of Texas Health Science Center at Houston)

  • Jennifer A. Brody

    (University of Washington)

  • April P. Carson

    (University of Mississippi Medical Center)

  • Nathalie Chami

    (Icahn School of Medicine at Mount Sinai)

  • Yii-Der Ida Chen

    (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Mina K. Chung

    (Vascular & Thoracic Institute)

  • Joanne E. Curran

    (The University of Texas Rio Grande Valley)

  • Dawood Darbar

    (University of Illinois Chicago)

  • Patrick T. Ellinor

    (Massachusetts General Hospital)

  • Myrian Fornage

    (The University of Texas Health Science Center at Houston)

  • Victor R. Gordeuk

    (University of Illinois at Chicago)

  • Xiuqing Guo

    (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Jiang He

    (Tulane University School of Public Health and Tropical Medicine)

  • Chii-Min Hwu

    (Taipei Veterans General Hospital)

  • Rita R. Kalyani

    (Johns Hopkins University School of Medicine)

  • Robert Kaplan

    (Albert Einstein College of Medicine)

  • Sharon L. R. Kardia

    (University of Michigan)

  • Charles Kooperberg

    (Fred Hutchinson Cancer Center)

  • Ruth J. F. Loos

    (Icahn School of Medicine at Mount Sinai
    University of Copenhagen)

  • Steven A. Lubitz

    (Massachusetts General Hospital)

  • Ryan L. Minster

    (University of Pittsburgh)

  • Take Naseri

    (Naseri & Associates Public Health Consultancy Firm and Family Health Clinic
    Brown University)

  • Satupa’itea Viali

    (Oceania University of Medicine
    National University of Samoa
    Yale University)

  • Braxton D. Mitchell

    (University of Maryland School of Medicine)

  • Joanne M. Murabito

    (and Blood Institute’s Framingham Heart Study)

  • Nicholette D. Palmer

    (Winston-)

  • Bruce M. Psaty

    (University of Washington
    University of Washington)

  • Susan Redline

    (Brigham and Women’s Hospital)

  • M. Benjamin Shoemaker

    (Vanderbilt University Medical Center)

  • Edwin K. Silverman

    (Brigham and Women’s Hospital and Harvard Medical School)

  • Marilyn J. Telen

    (Duke University School of Medicine)

  • Scott T. Weiss

    (Brigham and Women’s Hospital and Harvard Medical School)

  • Lisa R. Yanek

    (Johns Hopkins University School of Medicine)

  • Hufeng Zhou

    (Harvard T.H. Chan School of Public Health)

  • Ching-Ti Liu

    (Boston University)

  • Kari E. North

    (University of North Carolina at Chapel Hill)

  • Anne E. Justice

    (Geisinger)

  • Jonathan M. Locke

    (University of Exeter)

  • Nick Owens

    (University of Exeter)

  • Anna Murray

    (University of Exeter)

  • Kashyap Patel

    (University of Exeter)

  • Timothy M. Frayling

    (University of Exeter)

  • Caroline F. Wright

    (University of Exeter)

  • Andrew R. Wood

    (University of Exeter)

  • Xihong Lin

    (Harvard T.H. Chan School of Public Health
    Broad Institute of Harvard and MIT
    Harvard University)

  • Alisa Manning

    (Broad Institute)

  • Michael N. Weedon

    (University of Exeter)

Abstract

The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N = 200,003), TOPMed (N = 87,652) and All of Us (N = 45,445). We performed rare (

Suggested Citation

  • Gareth Hawkes & Robin N. Beaumont & Zilin Li & Ravi Mandla & Xihao Li & Christine M. Albert & Donna K. Arnett & Allison E. Ashley-Koch & Aneel A. Ashrani & Kathleen C. Barnes & Eric Boerwinkle & Jenni, 2024. "Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-52579-w
    DOI: 10.1038/s41467-024-52579-w
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    1. Robert Chen & Áine Duffy & Ben O. Petrazzini & Ha My Vy & David Stein & Matthew Mort & Joshua K. Park & Avner Schlessinger & Yuval Itan & David N. Cooper & Daniel M. Jordan & Ghislain Rocheleau & Ron , 2024. "Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score," Nature Communications, Nature, vol. 15(1), pages 1-16, December.

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