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  • BCX-Africa: Utilizing data science to evaluate the applicability of blood cell traits polygenic risk scores for disease prediction in Africa

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    Other PIs:
    • Tinashe Chikowore
    • Amma Benneh-Akwasi Kuma


    Contact PI

    Dr Segun Fatumo_Web_Profile (1).JPG

    Segun Fatumo
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    Research Project

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    The goal of the proposed work is to aggregate, manage, store and analyse largest genetic data of blood cell traits in continental Africa for novel gene discovery and genetic risk prediction using DSI-Africa funded Open Data Science Platform (ODSP) which allows for effective collaborative research in a resource limited setting. Circulating blood cell traits are critical intermediate clinical phenotypes for a range of disease outcomes including cardiovascular, oncologic, hematologic, immunologic and infectious disease. Genetic factors play an important role in determining these traits. However, hundreds of genetic loci have been identified using conventional genome-wide association study (GWAS) approach in European and East Asian-ancestry populations. In view of the genetic diversity of Africans from other ancestries, and their low representation of 1.1% in global GWAS, more studies are required to unravel population specific variants that have been noted to exist in blood cell traits. Given the central importance of Africa to human origins and disease susceptibility, there is a clear scientific and public health need to develop large-scale efforts examining blood cell traits susceptibility in populations of African descent, which might yield insights that will benefit other ethnicities regarding disease etiology and potential therapeutic strategies. Specifically, we will aggregate blood cell traits genome-wide association study (GWAS) data across continental Africa leveraging existing partnership in Africa including H3Africa. We will test for association between genetic variants and each blood cell traits in a meta-analysis GWAS and refine genetic association signals at new and existing blood cell traits association loci. We will develop and assess transferability of Polygenic Risk Score for blood cell traits risk in Africa including evaluating the predictivity of the blood cell traits PRS for hematologic and cardiometabolic traits. Our proposal is directly aimed at a key mission of RFA-RM-22-023, to support harnessing data science for health discovery, that will not only generate important findings relevant to human health, but also serve as a vehicle to improve the genomic data science research capacity in Africa. Our proposal also directly addresses NIH strategic plan for data science. The unique collaboration within the Human Heredity and Health in Africa (H3Africa) for a cross-group analyse in Africa data strengthen the capacity of scientific research through scientific training in all participating institution, which facilitate opportunity for shared expertise and resources

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