However, despite this rich and complex genetic heritage, fine-scale studies of Brazil's genetic population structure – which hold implications for health – remain limited. Whole-genome analyses focused on the Brazilian population are largely undone. To fill these critical gaps, Kelly Nunes and colleagues generated whole-genome sequence data from 2,723 individuals across Brazil, capturing a wide range of ethnic, geographic, and cultural backgrounds. Analysis of this data revealed that Brazilian genomes are among the most genetically diverse globally, containing novel haplotypes rooted in Indigenous American, African, and European ancestries. Notably, Nunes et al. uncovered over 8.7 million previously undocumented genetic variants – more than 11% of all variants in the dataset – many of which were absent from major global databases. Some of these variants lie in regulatory and protein-coding regions that may influence traits like fertility, metabolism, and immunity. The authors also identified 36,637 rare and potentially harmful variants that were more common in individuals with African or Indigenous American ancestry.
American Association for the Advancement of Science (AAAS)
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