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Paucity of data from African populations has restricted understanding of the heritable human genome variation. Although under-represented in human genetic studies, Africa has sizeable genetic, cultural and linguistic diversity. The Human Heredity and Health in Africa (H3Africa) initiative is aimed at understanding health problems relevant to African populations, and titling the scales of data deficit and lacking expertise in health-related genomics among African scientists. We emphasise that careful consideration of the sampled populations in the H3Africa projects is required to maximise the prospects of identifying and fine-mapping novel risk variants in indigenous populations. H3Africa which considers national and within-continental cohorts must have well thought out documented protocols that carefully consider human demographic history.

wellcome open research

H3Africa: crucial importance of knowledge on human demographic history in strategies for data exploitation – an analysis of the Luhya in Webuye, Kenya population from the 1000 Genomes Project