A genomic mutational constraint map using variation in 76,156 human genomes( vol 625 , pg 92 , 2024)

被引：10

作者：

Chen, Siwei

Francioli, Laurent C.

Goodrich, Julia K.

Collins, Ryan L.

Kanai, Masahiro

Wang, Qingbo

Alfoeldi, Jessica

Watts, Nicholas A.

Vittal, Christopher

Gauthier, Laura D.

Poterba, Timothy

Wilson, Michael W.

Tarasova, Yekaterina

Phu, William

Grant, Riley

Yohannes, Mary T.

Koenig, Zan

Farjoun, Yossi

Banks, Eric

Donnelly, Stacey

Gabriel, Stacey

Gupta, Namrata

Ferriera, Steven

Tolonen, Charlotte

Novod, Sam

Bergelson, Louis

Roazen, David

Ruano-Rubio, Valentin

Covarrubias, Miguel

Llanwarne, Christopher

Petrillo, Nikelle

Wade, Gordon

Jeandet, Thibault

Munshi, Ruchi

Tibbetts, Kathleen

Abreu, Maria

Aguilar Salinas, Carlos A.

Ahmad, Tariq

Albert, Christine M.

Ardissino, Diego

Armean, Irina M.

Atkinson, Elizabeth G.

Atzmon, Gil

Barnard, John

Baxter, Samantha M.

Beaugerie, Laurent

Benjamin, Emelia J.

Benjamin, David

Boehnke, Michael

Bonnycastle, Lori L.

机构：

[1] Broad Institute of MIT and Harvard,Program in Medical and Population Genetics

[2] Massachusetts General Hospital,Analytic and Translational Genetics Unit

[3] Massachusetts General Hospital,Center for Genomic Medicine

[4] Harvard Medical School,Division of Medical Sciences

[5] Osaka University Graduate School of Medicine,Department of Statistical Genetics

[6] Broad Institute of MIT and Harvard,Data Science Platform

[7] Broad Institute of MIT and Harvard,Stanley Center for Psychiatric Research

[8] Boston Children’s Hospital,Division of Genetics and Genomics

[9] Lady Davis Institute,Richards Lab

[10] Broad Institute of MIT and Harvard,Broad Genomics

[11] Broad Institute of MIT and Harvard,Unidad de Investigacion de Enfermedades Metabolicas

[12] University of Miami Miller School of Medicine,Centre for Population Genomics

[13] Gastroenterology,Centre for Population Genomics

[14] Instituto Nacional de Ciencias Medicas y Nutricion,Division of Preventive Medicine

[15] Peninsula College of Medicine and Dentistry,Division of Cardiovascular Medicine

[16] Institute for Molecular Medicine Finland (FIMM),Department of Cardiology

[17] Garvan Institute of Medical Research and UNSW Sydney,Department of Molecular and Human Genetics

[18] Murdoch Children’s Research Institute,Stanley Center for Psychiatric Research

[19] Brigham and Women’s Hospital,Department of Biology, Faculty of Natural Sciences

[20] Brigham and Women’s Hospital and Harvard Medical School,Departments of Medicine and Genetics

[21] University Hospital,Department of Quantitative Health Sciences

[22] Baylor College of Medicine,Gastroenterology Department

[23] The Broad Intitute of MIT and Harvard,Framingham Heart Study

[24] University of Haifa,Department of Medicine

[25] Albert Einstein College of Medicine,Department of Epidemiology

[26] Lerner Research Institute Cleveland Clinic,Department of Biostatistics and Center for Statistical Genetics

[27] Saint Antoine Hospital,National Human Genome Research Institute

[28] Sorbonne Université,The Charles Bronfman Institute for Personalized Medicine

[29] APHP,Department of Biochemistry

[30] NHLBI and Boston University,Center for Genomics and Personalized Medicine Research

[31] Boston University Chobanian and Avedisian School of Medicine,Center for Diabetes Research

[32] Boston University School of Public Health,Department of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre

[33] University of Michigan,NIHR Leicester Biomedical Research Centre

[34] National Institutes of Health Bethesda,Department of Neurology

[35] Icahn School of Medicine at Mount Sinai,Department of Medicine, Rutgers Robert Wood Johnson Medical School, Rutgers

[36] Wake Forest School of Medicine,Department of Genetics and the Human Genetics Institute of New Jersey, School of Arts and Sciences, Rutgers

[37] Wake Forest School of Medicine,Meyerhoff Inflammatory Bowel Disease Center

[38] Wake Forest School of Medicine,Department of Epidemiology and Biostatistics

[39] University of Leicester,Department of Cardiology

[40] Glenfield Hospital,Imperial College

[41] Massachusetts General Hospital and Harvard Medical School,Department of Medicine and Therapeutics

[42] The State University of New Jersey,Department of Medicine

[43] The State University of New Jersey,Department of Cardiovascular Medicine

[44] Johns Hopkins University School of Medicine,Department of Pediatrics

[45] Fulcrum Genomics,Herbert Irving Comprehensive Cancer Center

[46] Harvard School of Public Health,Department of Medicine

[47] Central American Population Center,Department of Psychiatry

[48] Imperial College London,Genomics Platform

[49] Ealing Hospital,Department of Medicine

[50] NHS Trust,Department of Medicine and Pharmacology

来源：

NATURE | 2024年 / 626卷 / 7997期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/s41586-024-07050-7

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：E1 / E1

页数：1

共 1 条

[1] A genomic mutational constraint map using variation in 76,156 human genomes [J].

Chen, Siwei ;

Francioli, Laurent C. ;

Goodrich, Julia K. ;

Collins, Ryan L. ;

Kanai, Masahiro ;

Wang, Qingbo ;

Alfoldi, Jessica ;

Watts, Nicholas A. ;

Vittal, Christopher ;

Gauthier, Laura D. ;

Poterba, Timothy ;

Wilson, Michael W. ;

Tarasova, Yekaterina ;

Phu, William ;

Grant, Riley ;

Yohannes, Mary T. ;

Koenig, Zan ;

Farjoun, Yossi ;

Banks, Eric ;

Donnelly, Stacey ;

Gabriel, Stacey ;

Gupta, Namrata ;

Ferriera, Steven ;

Tolonen, Charlotte ;

Novod, Sam ;

Bergelson, Louis ;

Roazen, David ;

Ruano-Rubio, Valentin ;

Covarrubias, Miguel ;

Llanwarne, Christopher ;

Petrillo, Nikelle ;

Wade, Gordon ;

Jeandet, Thibault ;

Munshi, Ruchi ;

Tibbetts, Kathleen ;

O'Donnell-Luria, Anne ;

Solomonson, Matthew ;

Seed, Cotton ;

Martin, Alicia R. ;

Talkowski, Michael E. ;

Rehm, Heidi L. ;

Daly, Mark J. ;

Tiao, Grace ;

Neale, Benjamin M. ;

MacArthur, Daniel G. ;

Karczewski, Konrad J. ;

Abreu, Maria ;

Aguilar Salinas, Carlos A. ;

Ahmad, Tariq ;

Albert, Christine M. .

NATURE, 2024, 625 (7993) :92-100

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