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Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa
Ist Teil von
Cell, 2019-10, Vol.179 (4), p.984-1002.e36
Ort / Verlag
United States: Elsevier Inc
Erscheinungsjahr
2019
Quelle
MEDLINE
Beschreibungen/Notizen
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.
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•The Uganda Genome Resource comprises genetic and phenotypic data on 6,400 individuals•Ugandans show geographically correlated genetic substructure and complex admixture•The Uganda sequence panel substantially improves imputation in African populations•The Uganda Genome Resource enables novel discovery of loci associated with traits
Genome-wide data from Ugandans reveal insights into their ancestry, trait heritability, and loci associated with metabolic parameters, thereby providing a diverse resource for the study of African population genetics.