Fatumo Segun, Mugisha Joseph, Soremekun Opeyemi S, Kalungi Allan, Mayanja Richard, Kintu Christopher, Makanga Ronald, Kakande Ayoub, Abaasa Andrew, Asiki Gershim, Kalyesubula Robert, Newton Robert, Nyirenda Moffat, Sandhu Manj S, Kaleebu Pontiano
The African Computational Genomics (TACG) Research Group, MRC/UVRI and LSHTM, Entebbe, Uganda.
The Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine London, London, UK.
Cell Genom. 2022 Nov 9;2(11):None. doi: 10.1016/j.xgen.2022.100209.
The Uganda Genome Resource (UGR) is a well-characterized genomic database with a range of phenotypic communicable and non-communicable diseases and risk factors generated from the Uganda General Population Cohort (GPC), a population-based open cohort established in 1989. The UGR comprises genotype data on ∼5,000 and whole-genome sequence data on ∼2,000 Ugandan GPC individuals from 10 ethno-linguistic groups. Leveraging other platforms at MRC/UVRI and LSHTM Uganda Research Unit, there is opportunity for additional sample collection to expand the UGR to advance scientific discoveries. Here, we describe UGR and highlight how it is providing opportunities for discovery of novel disease susceptibility genetic loci, refining association signals at new and existing loci, developing and testing polygenic scores to determine disease risk, assessing causal relations in diseases, and developing capacity for genomics research in Africa. The UGR has the potential to develop to a comparable level of European and Asian large-scale genomic initiatives.
乌干达基因组资源（UGR）是一个特征明确的基因组数据库，包含一系列来自乌干达普通人群队列（GPC）的表型传染性和非传染性疾病及风险因素，该队列是1989年建立的一个基于人群的开放队列。UGR包含约5000名乌干达GPC个体的基因型数据和约2000名来自10个民族语言群体的乌干达GPC个体的全基因组序列数据。利用MRC/UVRI和伦敦卫生与热带医学院乌干达研究单位的其他平台，有机会进行额外的样本采集，以扩大UGR，推动科学发现。在此，我们描述UGR，并强调它如何为发现新的疾病易感性基因座、完善新的和现有的基因座的关联信号、开发和测试多基因评分以确定疾病风险、评估疾病中的因果关系以及发展非洲基因组学研究能力提供机会。UGR有潜力发展到与欧洲和亚洲大规模基因组计划相当的水平。
