A deep catalogue of protein-coding variation in 983,578 individuals

Senior Partnerships and Business Operations; Business Operations and Administrative Coordinators; RGC-ME Cohort Partners; Accelerated Cures; African Descent and Glaucoma Evaluation Study (ADAGES) III; Age-related macular degeneration in the Amish; Albert Einstein College of Medicine; Amish Connectome Project; Amish Research Clinic; The Australia and New Zealand MS Genetics Consortium; Center for Non-Communicable Diseases (CNCD); Cincinnati Children’s Hospital; Columbia University; Dallas Heart Study; Diabetic Retinopathy Clinical Research (DRCR) Retina Network; Duke University; Flinders University of South Australia; Indiana Biobank; Indiana University School of Medicine; Kaiser Permanente; Mayo Clinic; Mexico City Prospective Study (MCPS); MyCode-DiscovEHR Geisinger Health System Biobank; National Institute of Mental Health; Northwestern University; Penn Medicine Biobank; Primary Open-Angle African American Glaucoma Genetics (POAAG) study; Regeneron–Mt. Sinai BioMe Biobank; UAB GWAS in African Americans with rheumatoid arthritis; UAB Whole exome sequencing of systemic lupus erythematosus patients; University of California, Los Angeles; University of Colorado School of Medicine; University of Michigan Medical School; University of Ottawa; University of Pennsylvania; University of Pittsburgh; University of Texas Health Science Center at Houston; Vanderbilt University Medical Center; Regeneron Genetics Center; RGC Management and Leadership Team; Sequencing and Lab Operations; Clinical Informatics; Genome Informatics and Data Engineering; Analytical Genetics and Data Science; Therapeutic Area Genetics; Research Program Management and Strategic Initiatives

doi:10.1038/s41586-024-07556-0

A deep catalogue of protein-coding variation in 983,578 individuals

Senior Partnerships and Business Operations, Business Operations and Administrative Coordinators, RGC-ME Cohort Partners, Accelerated Cures, African Descent and Glaucoma Evaluation Study (ADAGES) III, Age-related macular degeneration in the Amish, Albert Einstein College of Medicine, Amish Connectome Project, Amish Research Clinic, The Australia and New Zealand MS Genetics Consortium, Center for Non-Communicable Diseases (CNCD), Cincinnati Children’s Hospital, Columbia University, Dallas Heart Study, Diabetic Retinopathy Clinical Research (DRCR) Retina Network, Duke University, Flinders University of South Australia, Indiana Biobank, Indiana University School of Medicine, Kaiser PermanenteMayo Clinic, Mexico City Prospective Study (MCPS), MyCode-DiscovEHR Geisinger Health System Biobank, National Institute of Mental Health, Northwestern University, Penn Medicine Biobank, Primary Open-Angle African American Glaucoma Genetics (POAAG) study, Regeneron–Mt. Sinai BioMe Biobank, UAB GWAS in African Americans with rheumatoid arthritis, UAB Whole exome sequencing of systemic lupus erythematosus patients, University of California, Los Angeles, University of Colorado School of Medicine, University of Michigan Medical School, University of Ottawa, University of Pennsylvania, University of Pittsburgh, University of Texas Health Science Center at Houston, Vanderbilt University Medical Center, Regeneron Genetics Center, RGC Management and Leadership Team, Sequencing and Lab Operations, Clinical Informatics, Genome Informatics and Data Engineering, Analytical Genetics and Data Science, Therapeutic Area Genetics, Research Program Management and Strategic Initiatives

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	583-592
Number of pages	10
Journal	Nature
Volume	631
Issue number	8021
DOIs	https://doi.org/10.1038/s41586-024-07556-0
State	Published - Jul 18 2024
Externally published	Yes

ASJC Scopus Subject Areas

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10.1038/s41586-024-07556-0

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Senior Partnerships and Business Operations, Business Operations and Administrative Coordinators, RGC-ME Cohort Partners, Accelerated Cures, African Descent and Glaucoma Evaluation Study (ADAGES) III, Age-related macular degeneration in the Amish, Albert Einstein College of Medicine, Amish Connectome Project, Amish Research Clinic, The Australia and New Zealand MS Genetics Consortium, Center for Non-Communicable Diseases (CNCD), Cincinnati Children’s Hospital, Columbia University, Dallas Heart Study, Diabetic Retinopathy Clinical Research (DRCR) Retina Network, Duke University, Flinders University of South Australia, Indiana Biobank, Indiana University School of Medicine, ... Research Program Management and Strategic Initiatives (2024). A deep catalogue of protein-coding variation in 983,578 individuals. Nature, 631(8021), 583-592. https://doi.org/10.1038/s41586-024-07556-0

Senior Partnerships and Business Operations, Business Operations and Administrative Coordinators, RGC-ME Cohort Partners, Accelerated Cures, African Descent and Glaucoma Evaluation Study (ADAGES) III, Age-related macular degeneration in the Amish, Albert Einstein College of Medicine, Amish Connectome Project, Amish Research Clinic, The Australia and New Zealand MS Genetics Consortium, Center for Non-Communicable Diseases (CNCD), Cincinnati Children’s Hospital, Columbia University, Dallas Heart Study, Diabetic Retinopathy Clinical Research (DRCR) Retina Network, Duke University, Flinders University of South Australia, Indiana Biobank, Indiana University School of Medicine, Kaiser Permanente, Mayo Clinic, Mexico City Prospective Study (MCPS), MyCode-DiscovEHR Geisinger Health System Biobank, National Institute of Mental Health, Northwestern University, Penn Medicine Biobank, Primary Open-Angle African American Glaucoma Genetics (POAAG) study, Regeneron–Mt. Sinai BioMe Biobank, UAB GWAS in African Americans with rheumatoid arthritis, UAB Whole exome sequencing of systemic lupus erythematosus patients, University of California, Los Angeles, University of Colorado School of Medicine, University of Michigan Medical School, University of Ottawa, University of Pennsylvania, University of Pittsburgh, University of Texas Health Science Center at Houston, Vanderbilt University Medical Center, Regeneron Genetics Center, RGC Management and Leadership Team, Sequencing and Lab Operations, Clinical Informatics, Genome Informatics and Data Engineering, Analytical Genetics and Data Science, Therapeutic Area Genetics & Research Program Management and Strategic Initiatives 2024, 'A deep catalogue of protein-coding variation in 983,578 individuals', Nature, vol. 631, no. 8021, pp. 583-592. https://doi.org/10.1038/s41586-024-07556-0

Senior Partnerships and Business Operations, Business Operations and Administrative Coordinators, RGC-ME Cohort Partners, Accelerated Cures, African Descent and Glaucoma Evaluation Study (ADAGES) III, Age-related macular degeneration in the Amish et al. A deep catalogue of protein-coding variation in 983,578 individuals. Nature. 2024 Jul 18;631(8021):583-592. doi: 10.1038/s41586-024-07556-0

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title = "A deep catalogue of protein-coding variation in 983,578 individuals",

author = "{Senior Partnerships and Business Operations} and {Business Operations and Administrative Coordinators} and {RGC-ME Cohort Partners} and {Accelerated Cures} and {African Descent and Glaucoma Evaluation Study (ADAGES) III} and {Age-related macular degeneration in the Amish} and {Albert Einstein College of Medicine} and {Amish Connectome Project} and {Amish Research Clinic} and {The Australia and New Zealand MS Genetics Consortium} and {Center for Non-Communicable Diseases (CNCD)} and {Cincinnati Children{\textquoteright}s Hospital} and {Columbia University} and {Dallas Heart Study} and {Diabetic Retinopathy Clinical Research (DRCR) Retina Network} and {Duke University} and {Flinders University of South Australia} and {Indiana Biobank} and {Indiana University School of Medicine} and {Kaiser Permanente} and {Mayo Clinic} and {Mexico City Prospective Study (MCPS)} and {MyCode-DiscovEHR Geisinger Health System Biobank} and {National Institute of Mental Health} and {Northwestern University} and {Penn Medicine Biobank} and {Primary Open-Angle African American Glaucoma Genetics (POAAG) study} and {Regeneron–Mt. Sinai BioMe Biobank} and {UAB GWAS in African Americans with rheumatoid arthritis} and {UAB Whole exome sequencing of systemic lupus erythematosus patients} and {University of California, Los Angeles} and {University of Colorado School of Medicine} and {University of Michigan Medical School} and {University of Ottawa} and {University of Pennsylvania} and {University of Pittsburgh} and {University of Texas Health Science Center at Houston} and {Vanderbilt University Medical Center} and {Regeneron Genetics Center} and {RGC Management and Leadership Team} and {Sequencing and Lab Operations} and {Clinical Informatics} and {Genome Informatics and Data Engineering} and {Analytical Genetics and Data Science} and {Therapeutic Area Genetics} and {Research Program Management and Strategic Initiatives} and Sun, {Kathie Y.} and Xiaodong Bai and Siying Chen and Suying Bao and Chuanyi Zhang and Manav Kapoor and Joshua Backman and Tyler Joseph and Evan Maxwell and George Mitra and Alexander Gorovits and Adam Mansfield and Boris Boutkov and Sujit Gokhale and Lukas Habegger and Anthony Marcketta and Locke, {Adam E.} and Liron Ganel and Alicia Hawes and Kessler, {Michael D.} and Deepika Sharma and Jeffrey Staples and Jonas Bovijn and Sahar Gelfman and {Di Gioia}, Alessandro and Rajagopal, {Veera M.} and Alexander Lopez and Varela, {Jennifer Rico} and Jes{\'u}s Alegre-D{\'i}az and Jaime Berumen and Roberto Tapia-Conyer and Pablo Kuri-Morales and Jason Torres and Jonathan Emberson and Rory Collins and Gon{\c c}alo Abecasis and Giovanni Coppola and Andrew Deubler and Aris Economides and Adolfo Ferrando and Lotta, {Luca A.} and Alan Shuldiner and Katherine Siminovitch and Christina Beechert and Brian, {Erin D.} and Cremona, {Laura M.} and Hang Du and Caitlin Forsythe and Zhenhua Gu and Heather Wheeler",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2024.",

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doi = "10.1038/s41586-024-07556-0",

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T1 - A deep catalogue of protein-coding variation in 983,578 individuals

AU - Senior Partnerships and Business Operations

AU - Business Operations and Administrative Coordinators

AU - RGC-ME Cohort Partners

AU - Accelerated Cures

AU - African Descent and Glaucoma Evaluation Study (ADAGES) III

AU - Age-related macular degeneration in the Amish

AU - Albert Einstein College of Medicine

AU - Amish Connectome Project

AU - Amish Research Clinic

AU - The Australia and New Zealand MS Genetics Consortium

AU - Center for Non-Communicable Diseases (CNCD)

AU - Cincinnati Children’s Hospital

AU - Columbia University

AU - Dallas Heart Study

AU - Diabetic Retinopathy Clinical Research (DRCR) Retina Network

AU - Duke University

AU - Flinders University of South Australia

AU - Indiana Biobank

AU - Indiana University School of Medicine

AU - Kaiser Permanente

AU - Mayo Clinic

AU - Mexico City Prospective Study (MCPS)

AU - MyCode-DiscovEHR Geisinger Health System Biobank

AU - National Institute of Mental Health

AU - Northwestern University

AU - Penn Medicine Biobank

AU - Primary Open-Angle African American Glaucoma Genetics (POAAG) study

AU - Regeneron–Mt. Sinai BioMe Biobank

AU - UAB GWAS in African Americans with rheumatoid arthritis

AU - UAB Whole exome sequencing of systemic lupus erythematosus patients

AU - University of California, Los Angeles

AU - University of Colorado School of Medicine

AU - University of Michigan Medical School

AU - University of Ottawa

AU - University of Pennsylvania

AU - University of Pittsburgh

AU - University of Texas Health Science Center at Houston

AU - Vanderbilt University Medical Center

AU - Regeneron Genetics Center

AU - RGC Management and Leadership Team

AU - Sequencing and Lab Operations

AU - Clinical Informatics

AU - Genome Informatics and Data Engineering

AU - Analytical Genetics and Data Science

AU - Therapeutic Area Genetics

AU - Research Program Management and Strategic Initiatives

AU - Sun, Kathie Y.

AU - Bai, Xiaodong

AU - Chen, Siying

AU - Bao, Suying

AU - Zhang, Chuanyi

AU - Kapoor, Manav

AU - Backman, Joshua

AU - Joseph, Tyler

AU - Maxwell, Evan

AU - Mitra, George

AU - Gorovits, Alexander

AU - Mansfield, Adam

AU - Boutkov, Boris

AU - Gokhale, Sujit

AU - Habegger, Lukas

AU - Marcketta, Anthony

AU - Locke, Adam E.

AU - Ganel, Liron

AU - Hawes, Alicia

AU - Kessler, Michael D.

AU - Sharma, Deepika

AU - Staples, Jeffrey

AU - Bovijn, Jonas

AU - Gelfman, Sahar

AU - Di Gioia, Alessandro

AU - Rajagopal, Veera M.

AU - Lopez, Alexander

AU - Varela, Jennifer Rico

AU - Alegre-Díaz, Jesús

AU - Berumen, Jaime

AU - Tapia-Conyer, Roberto

AU - Kuri-Morales, Pablo

AU - Torres, Jason

AU - Emberson, Jonathan

AU - Collins, Rory

AU - Abecasis, Gonçalo

AU - Coppola, Giovanni

AU - Deubler, Andrew

AU - Economides, Aris

AU - Ferrando, Adolfo

AU - Lotta, Luca A.

AU - Shuldiner, Alan

AU - Siminovitch, Katherine

AU - Beechert, Christina

AU - Brian, Erin D.

AU - Cremona, Laura M.

AU - Du, Hang

AU - Forsythe, Caitlin

AU - Gu, Zhenhua

AU - Wheeler, Heather

PY - 2024/7/18

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JO - Nature

JF - Nature

IS - 8021

ER -

A deep catalogue of protein-coding variation in 983,578 individuals

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