Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana

Large-scale, population-based genomic studies have provided a context for modern medical genetics. Among such studies, however, African populations have remained relatively underrepresented. The breadth of genetic diversity across the African continent argues for an exploration of local genomic context to facilitate burgeoning disease mapping studies in Africa. We sought to characterize genetic variation and to assess population substructure within a cohort of HIV-positive children from Botswana —a Southern African country that is regionally underrepresented in genomic databases.

Source: The American Journal of Human Genetics - April 26, 2018 Category: Genetics & Stem Cells Authors: Gaone Retshabile, Busisiwe C. Mlotshwa, Lesedi Williams, Savannah Mwesigwa, Gerald Mboowa, Zhuoyi Huang, Navin Rustagi, Shanker Swaminathan, Eric Katagirya, Samuel Kyobe, Misaki Wayengera, Grace P. Kisitu, David P. Kateete, Eddie M. Wampande, Koketso Mapl Tags: Article Source Type: research