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

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
20 May 2024
Historique:
received: 19 06 2023
accepted: 10 05 2024
medline: 21 5 2024
pubmed: 21 5 2024
entrez: 20 5 2024
Statut: aheadofprint

Résumé

Rare coding variants that significantly impact function provide insights into the biology of a gene

Identifiants

DOI: 10.1038/s41586-024-07556-0 PMID: 38768635
pubmed: 38768635
doi: 10.1038/s41586-024-07556-0
pii: 10.1038/s41586-024-07556-0
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024. The Author(s), under exclusive licence to Springer Nature Limited.

Auteurs

Kathie Y Sun (KY)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0003-1200-452X

Xiaodong Bai (X)

Regeneron Genetics Center, Tarrytown, NY, USA.

Siying Chen (S)

Regeneron Genetics Center, Tarrytown, NY, USA.

Suying Bao (S)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0002-6220-0257

Chuanyi Zhang (C)

Regeneron Genetics Center, Tarrytown, NY, USA.

Manav Kapoor (M)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0001-6682-940X

Joshua Backman (J)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0001-7262-0880

Tyler Joseph (T)

Regeneron Genetics Center, Tarrytown, NY, USA.

Evan Maxwell (E)

Regeneron Genetics Center, Tarrytown, NY, USA.

George Mitra (G)

Regeneron Genetics Center, Tarrytown, NY, USA.

Alexander Gorovits (A)

Regeneron Genetics Center, Tarrytown, NY, USA.

Adam Mansfield (A)

Regeneron Genetics Center, Tarrytown, NY, USA.

Boris Boutkov (B)

Regeneron Genetics Center, Tarrytown, NY, USA.

Sujit Gokhale (S)

Regeneron Genetics Center, Tarrytown, NY, USA.

Lukas Habegger (L)

Regeneron Genetics Center, Tarrytown, NY, USA.

Anthony Marcketta (A)

Regeneron Genetics Center, Tarrytown, NY, USA.

Adam E Locke (AE)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0001-6227-198X

Liron Ganel (L)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0002-8762-622X

Alicia Hawes (A)

Regeneron Genetics Center, Tarrytown, NY, USA.

Michael D Kessler (MD)

Regeneron Genetics Center, Tarrytown, NY, USA.

Deepika Sharma (D)

Regeneron Genetics Center, Tarrytown, NY, USA.

Jeffrey Staples (J)

Regeneron Genetics Center, Tarrytown, NY, USA.

Jonas Bovijn (J)

Regeneron Genetics Center, Tarrytown, NY, USA.

Sahar Gelfman (S)

Regeneron Genetics Center, Tarrytown, NY, USA.

Alessandro Di Gioia (A)

Regeneron Genetics Center, Tarrytown, NY, USA.

Veera M Rajagopal (VM)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0002-5236-168X

Alexander Lopez (A)

Regeneron Genetics Center, Tarrytown, NY, USA.

Jennifer Rico Varela (JR)

Regeneron Genetics Center, Tarrytown, NY, USA.

Jesus Alegre (J)

Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.
ORCID: 0000-0001-9390-3871

Jaime Berumen (J)

Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.
ORCID: 0000-0001-6707-3317

Roberto Tapia-Conyer (R)

Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.
ORCID: 0000-0003-3814-2904

Pablo Kuri-Morales (P)

Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.
Instituto Tecnológico y de Estudios Superiores de Monterrey, Monterrey, Mexico.
ORCID: 0000-0002-0704-9507

Jason Torres (J)

Clinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
ORCID: 0000-0002-7537-7035

Jonathan Emberson (J)

Clinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
ORCID: 0000-0001-7792-9422

Rory Collins (R)

Clinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

Michael Cantor (M)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0002-1074-1203

Timothy Thornton (T)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0001-7071-2642

Hyun Min Kang (HM)

Regeneron Genetics Center, Tarrytown, NY, USA.

John D Overton (JD)

Regeneron Genetics Center, Tarrytown, NY, USA.

Alan R Shuldiner (AR)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0001-9921-4305

M Laura Cremona (ML)

Regeneron Genetics Center, Tarrytown, NY, USA.

Mona Nafde (M)

Regeneron Genetics Center, Tarrytown, NY, USA.

Aris Baras (A)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0002-6830-3396

Goncalo Abecasis (G)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0003-1509-1825

Jonathan Marchini (J)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0003-0610-8322

Jeffrey G Reid (JG)

Regeneron Genetics Center, Tarrytown, NY, USA.
ORCID: 0000-0001-8645-4713

William Salerno (W)

Regeneron Genetics Center, Tarrytown, NY, USA. william.salerno@regeneron.com.
ORCID: 0000-0003-2975-4108

Suganthi Balasubramanian (S)

Regeneron Genetics Center, Tarrytown, NY, USA. suganthi.bala@regeneron.com.
ORCID: 0000-0003-2243-5948

Classifications MeSH