articleScienceMay 15, 2025Closed access

Admixture’s impact on Brazilian population evolution and health

Universidade de São Paulo · Universitat Pompeu Fabra · +9 more institutions

PubMed
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Abstract

Brazil, the largest Latin American country, is underrepresented in genomic research despite boasting the world's largest recently admixed population. In this study, we generated 2723 high-coverage whole-genome sequences from the Brazilian population, including urban, rural, and riverine communities representing diverse ethnic backgrounds. We reveal the impressive genomic diversity of Brazilians, identifying >8 million previously unknown variants, including 36,637 predicted deleterious and potentially affecting population health. We found a positive correlation between these deleterious variants and ancestry. Brazilian genomes are a global haplotype mosaic shaped by nonrandom mating, with peak admixture in the…

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