Admixture’s impact on Brazilian population evolution and health
- Kelly Nunes
- Marcos Araújo Castro e Silva
- Maíra R. Rodrigues
- Renan Barbosa Lemes
- Patricio Pezo-Valderrama
- Lilian Kimura
- Lucas Schenatto de Sena
- José Eduardo Krieger
- Margareth Catoia Varela
- Luiz Otávio de Azevedo
- Luis Marcelo Aranha Camargo
- Ricardo G. M. Ferreira
- Henrique Krieger
- Maria Cátira Bortolini
- José Geraldo Mill
- Putira Sacuena
- João F. Guerreiro
- Celia M. B. de Souza
- Francisco V. Veronese
- Fernanda S. L. Vianna
- David Comas
- Alexandre C. Pereira
- Lygia V. Pereira
- Tábita Hünemeier
2025-05-29
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 18th and 19th centuries. Within this diversity, ancestry-specific haplotypes exhibit an uneven spatiotemporal distribution. We also identified putatively selected genes in this diverse population, primarily linked to fertility, immune response, and metabolic traits.