Genome mapping of Brazil's diverse population uncovers new variants linked to health

Indicated research analyzed a complete sequence of 2.7,000 Brazilians and found 8.7 million genetic variations never before catalogued, resulting from mixing between indigenous, black and European peoples.

Science Magazine: Brazilian population's DNA is the most diverse in the world

An international study has sequenced for the first time the entire genome of the Brazilian population, revealing more than 8 million previously unknown genetic variants, including 36,637 with a potential detrimental effect on health. The research, published in ' Science ' and led by the Institute of Evolutionary Biology (IBE-CSIC-UPF) and the University of São Paulo, represents the greatest effort of genetic characterization in Brazil to date, w…

Genome mapping of Brazil's diverse population uncovers new variants linked to health

For the first time, an international study has deciphered the genome of the population of Brazil. Published in the journal Science, the research includes the African, Native American, and European ancestries making up this population, which has the world's highest level of recent genetic admixture.

Millions of Unknown Genetic Variants Revealed in Brazilians

A study has revealed exceptionally high levels of genetic diversity in Brazil and uncovered millions of previously unknown genetic variants not found in current databases, which are predominantly European. The findings, outlined in Science, strengthen calls for more diverse inclusion into genetic databases and biobanks. This would help in the design of future studies into personalized medicine, as some genetic variants can have a substantial imp…

Currently, it is estimated that there are at least 7,000 genetic diseases. Photo: courtesy Gencell In Latin America and Colombia important advances have been demonstrated in sequencing DNA and genomic technologies, which has transformed the way in which these pathologies are studied and treated, positively impacting the quality of life of patients. Gencell, a leading laboratory in genetics that has been present in the country for more than 15 ye…