High-depth African genomes inform human migration and health

Area of Science:

• Genomics
• Population Genetics
• Human Evolution

Background:

• African genomes harbor the most human genetic variation.
• Previous genomic surveys of African populations have been limited.
• Understanding this diversity is crucial for human ancestry and health.

Observation:

• Whole-genome sequencing of 426 individuals from 50 ethnolinguistic groups across Africa.
• Exploration of previously unsampled populations to capture broader genomic diversity.
• Analysis revealed complex patterns of admixture and novel genetic variants.

Findings:

• Discovery of over 3 million novel genetic variants, predominantly in newly sampled groups.
• Identification of 62 new loci under strong selection, particularly in genes related to immunity, DNA repair, and metabolism.
• Evidence suggests Zambia as a key Bantu expansion route and highlights common 'likely pathogenic' variants in non-medically characterized genes.

Implications:

• Refines understanding of continental migration and gene flow as drivers of genomic variation.
• Identifies viral immunity, DNA repair, and metabolism as key areas of adaptation.
• Underscores the critical need for comprehensive African genomic diversity characterization for improved human ancestry insights and health outcomes.