Exome sequencing and analysis of 454,787 UK Biobank participants.

doi:10.1038/s41586-021-04103-z

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Article

Exome sequencing and analysis of 454,787 UK Biobank participants.

Nature - 1 Nov 2021

Backman Joshua D, Li Alexander H, Marcketta Anthony, Sun Dylan, Mbatchou Joelle, Kessler Michael D, Benner Christian, Liu Daren, Locke Adam E, Balasubramanian Suganthi, Yadav Ashish, Banerjee Nilanjana, Gillies Christopher E, Damask Amy, Liu Simon, Bai Xiaodong, Hawes Alicia, Maxwell Evan, Gurski Lauren, Watanabe Kyoko, Kosmicki Jack A, Rajagopal Veera, Mighty Jason, Jones Marcus, Mitnaul Lyndon, Stahl Eli, Coppola Giovanni, Jorgenson Eric, Habegger Lukas, Salerno William J, Shuldiner Alan R, Lotta Luca A, Overton John D, Cantor Michael N, Reid Jeffrey G, Yancopoulos George, Kang Hyun M, Marchini Jonathan, Baras Aris, Abecasis Gonçalo R, Ferreira Manuel A R

Abstract excerpt

A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study2. We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million deleterious...

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PMID: 34662886
DOI: 10.1038/s41586-021-04103-z
PMCID: PMC8596853

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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