Uganda genome resource enables insights into population history and genomic discovery in Africa

Gurdasani, Deepti, Carstensen, Tommy, Fatumo, Segun, Chen, Guanjie, Franklin, Chris S., Prado-Martinez, Javier, Bouman, Heleen, Abascal, Federico, Haber, Marc, Tachmazidou, Ioanna, Mathieson, Iain, Ekoru, Kenneth, DeGorter, Marianne K., Nsubuga, Rebecca N., Finan, Chris, Wheeler, Eleanor, Chen, Li, Cooper, David N., Schiffels, Stephan, Chen, Yuan, Ritchie, Graham R. S., Pollard, Martin O., Fortune, Mary D., Mentzer, Alex J., Garrison, Erik, Bergström, Anders ORCID:, Hatzikotoulas, Konstantinos, Adeyemo, Adebowale, Doumatey, Ayo, Elding, Heather, Wain, Louise V., Ehret, George, Auer, Paul L., Kooperberg, Charles L., Reiner, Alexander P., Franceschini, Nora, Maher, Dermot, Montgomery, Stephen B., Kadie, Carl, Widmer, Chris, Xue, Yali, Seeley, Janet, Asiki, Gershim, Kamali, Anatoli, Young, Elizabeth H., Pomilla, Cristina, Soranzo, Nicole, Zeggini, Eleftheria, Pirie, Fraser, Morris, Andrew P., Heckerman, David, Tyler-Smith, Chris, Motala, Ayesha, Rotimi, Charles, Kaleebu, Pontiano, Barroso, Ines and Sandhu, Manj S. (2019) Uganda genome resource enables insights into population history and genomic discovery in Africa. Cell, 179 (4). 984-1002.e36. ISSN 0092-8674

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Genomic studies in African populations provide unique opportunities to understand disease etiology, human diversity, and population history. In the largest study of its kind, comprising genome-wide data from 6,400 individuals and whole-genome sequences from 1,978 individuals from rural Uganda, we find evidence of geographically correlated fine-scale population substructure. Historically, the ancestry of modern Ugandans was best represented by a mixture of ancient East African pastoralists. We demonstrate the value of the largest sequence panel from Africa to date as an imputation resource. Examining 34 cardiometabolic traits, we show systematic differences in trait heritability between European and African populations, probably reflecting the differential impact of genes and environment. In a multi-trait pan-African GWAS of up to 14,126 individuals, we identify novel loci associated with anthropometric, hematological, lipid, and glycemic traits. We find that several functionally important signals are driven by Africa-specific variants, highlighting the value of studying diverse populations across the region.

Item Type: Article
Faculty \ School: Faculty of Social Sciences > School of Economics
Faculty of Science > School of Biological Sciences
Faculty of Social Sciences > School of Global Development (formerly School of International Development)
UEA Research Groups: Faculty of Social Sciences > Research Centres > Centre for Behavioural and Experimental Social Sciences
Faculty of Social Sciences > Research Groups > Behavioural Economics
Depositing User: LivePure Connector
Date Deposited: 24 Oct 2023 01:44
Last Modified: 24 Oct 2023 01:44
DOI: 10.1016/j.cell.2019.10.004

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