High-depth African genomes inform human migration and health
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Date
2021
Journal Title
Journal ISSN
Volume Title
Publisher
Choudhury, A. et al. (2021). Author correction: High-depth African genomes inform human migration and health (nature, (2020), 586, 7831, (741-748), 10.1038/s41586-020-2859-7). Nature, 592(7856), E26. doi:10.1038/s41586-021-03286-9
Abstract
The African continent is regarded as the cradle of modern humans and African
genomes contain more genetic variation than those from any other continent, yet
only a fraction of the genetic diversity among African individuals has been surveyed1.
Here we performed whole-genome sequencing analyses of 426 individuals—
comprising 50 ethnolinguistic groups, including previously unsampled populations—
to explore the breadth of genomic diversity across Africa. We uncovered more than
3 million previously undescribed variants, most of which were found among
individuals from newly sampled ethnolinguistic groups, as well as 62 previously
unreported loci that are under strong selection, which were predominantly found in
genes that are involved in viral immunity, DNA repair and metabolism. We observed
complex patterns of ancestral admixture and putative-damaging and novel variation,
both within and between populations, alongside evidence that population from
Zambia were a likely intermediate site along the routes of expansion of Bantuspeaking
populations. Pathogenic variants in genes that are currently characterized
as medically relevant were uncommon—but in other genes, variants denoted as ‘likely
pathogenic’ in the ClinVar database were commonly observed. Collectively, these
findings refine our current understanding of continental migration, identify gene flow
and the response to human disease as strong drivers of genome-level population
variation, and underscore the scientific imperative for a broader characterization of
the genomic diversity of African individuals to understand human ancestry and
improve health.
Description
Keywords
African genomes, Genetics, DNA repair, Pathogenic variants