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. ORCID: https://orcid.org/0000-0002-8943-8484, Schiffels, Stephen, Chen, Yuan, Ritchie, Graham R.S., Pollard, Martin O., Fortune, Mary D., Mentzer, Alex J., Garrison, Erik, Bergström, Anders, 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 P., 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. 10.1016/j.cell.2019.10.004 |
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Abstract
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 |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Publisher: | Elsevier (Cell Press) |
ISSN: | 0092-8674 |
Date of First Compliant Deposit: | 8 November 2019 |
Date of Acceptance: | 2 October 2019 |
Last Modified: | 17 Nov 2024 05:00 |
URI: | https://orca.cardiff.ac.uk/id/eprint/126684 |
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