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High-depth African genomes inform human migration and health.

Authors :
Choudhury A
Aron S
Botigué LR
Sengupta D
Botha G
Bensellak T
Wells G
Kumuthini J
Shriner D
Fakim YJ
Ghoorah AW
Dareng E
Odia T
Falola O
Adebiyi E
Hazelhurst S
Mazandu G
Nyangiri OA
Mbiyavanga M
Benkahla A
Kassim SK
Mulder N
Adebamowo SN
Chimusa ER
Muzny D
Metcalf G
Gibbs RA
Rotimi C
Ramsay M
Adeyemo AA
Lombard Z
Hanchard NA
Source :
Nature [Nature] 2020 Oct; Vol. 586 (7831), pp. 741-748. Date of Electronic Publication: 2020 Oct 28.
Publication Year :
2020

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 surveyed <superscript>1</superscript> . 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 Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking 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.

Details

Language :
English
ISSN :
1476-4687
Volume :
586
Issue :
7831
Database :
MEDLINE
Journal :
Nature
Publication Type :
Academic Journal
Accession number :
33116287
Full Text :
https://doi.org/10.1038/s41586-020-2859-7