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APCDR Uganda GWAS: Genome-wide sequence variation and susceptibility loci for cardiometabolic traits in a sub-Saharan African population (UG2G component)

Genomic studies in African populations provide unique opportunities to understand disease aetiology, human genetic diversity and population history in a regional and a global context. To leverage the relative benefits of different strategies, we undertook a combined approach of genotyping and whole-genome sequencing (WGS) in a population-based study of 6,400 individuals from a geographically defined rural community in South-West Uganda. We present data from 4,778 individuals with genotypes for ~2.2 million SNPs from the Uganda GWAS resource (UGWAS), and sequence data on up to 1,978 individuals spanning 41.5M SNPs and 4.5M indels (UG2G); 343 individuals overlap between the two datasets. We highlight the value of the largest sequence panel from Africa to date as a global resource for variant discovery, imputation and understanding the mutational spectrum and its clinical relevance in African populations. Alongside phenotype data, we provide a rich new genomic resource for researchers in Africa and globally.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001639 Illumina HiSeq 2000 2000
EGAD00001005346 Illumina HiSeq 2000 3
Publications Citations
The transferability of lipid loci across African, Asian and European cohorts.
Nat Commun 10: 2019 4330
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
Cell 179: 2019 984-1002.e36
The flashfm approach for fine-mapping multiple quantitative traits.
Nat Commun 12: 2021 6147
Genetic insights into smoking behaviours in 10,558 men of African ancestry from continental Africa and the UK.
Sci Rep 12: 2022 18828
Uganda Genome Resource: A rich research database for genomic studies of communicable and non-communicable diseases in Africa.
Cell Genom 2: 2022 None
Multivariate GWAS analysis reveals loci associated with liver functions in continental African populations.
PLoS One 18: 2023 e0280344
Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions.
Genome Med 15: 2023 87