{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Sun KY"],"funding":["Intramural NIH HHS","Medical Research Council","NCI NIH HHS"],"pubmed_abstract":["Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample sizes. Here, we present the largest catalog of human protein-coding variation to date, derived from exome sequencing of 985,830 individuals of diverse ancestry to serve as a rich resource for studying rare coding variants. Individuals of African, Admixed American, East Asian, Middle Eastern, and South Asian ancestry account for 20% of this Exome dataset. Our catalog of variants includes approximately 10.5 million missense (54% novel) and 1.1 million predicted loss-of-function (pLOF) variants (65% novel, 53% observed only once). We identified individuals w"],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2023.05.09.539329"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10197621"],"repository":["biostudies-literature"],"pubmed_title":["A deep catalog of protein-coding variation in 985,830 individuals."],"pmcid":["PMC10197621"],"funding_grant_id":["ZIA MH002843","R01 CA157823","MC_UU_00017/2"],"pubmed_authors":["Berumen J","Rajagopal V","Torres J","Joseph T","Mitra G","Thornton T","Marchini J","Alegre J","Gokhale S","Maxwell E","Baras A","Mansfield A","Overton J","Salerno W","Sharma D","Varela JR","RGC-ME Cohort Partners","Nafde M","Chen S","Zhang C","Emberson J","Backman J","Lopez A","Kang HM","Cremona ML","Staples J","Gioia AD","Abecasis G","Reid JG","Boutkov B","Cantor M","Kapoor M","Gorovits A","Balasubramanian S","Sun KY","Collins R","Habegger L","Shuldiner AR","Bao S","Bai X","Regeneron Genetics Center","Locke A","Tapia-Conyer R","Bovijn J","Marcketta A","Gelfman S","Kessler MD","Kuri-Morales P"],"additional_accession":[]},"is_claimable":false,"name":"A deep catalog of protein-coding variation in 985,830 individuals.","description":"Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample sizes. Here, we present the largest catalog of human protein-coding variation to date, derived from exome sequencing of 985,830 individuals of diverse ancestry to serve as a rich resource for studying rare coding variants. Individuals of African, Admixed American, East Asian, Middle Eastern, and South Asian ancestry account for 20% of this Exome dataset. Our catalog of variants includes approximately 10.5 million missense (54% novel) and 1.1 million predicted loss-of-function (pLOF) variants (65% novel, 53% observed only once). We identified individuals w","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2026-06-26T03:18:49.851Z","creation":"2025-04-19T04:38:44.158Z"},"accession":"S-EPMC10197621","cross_references":{"pubmed":["37214792"],"doi":["10.1101/2023.05.09.539329"]}}