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EPIGEN - Genomic Epidemiology of Brazilian Cohorts

Epigen-Brazil is the largest Latin American initiative in population genomics and genetic epidemiology and the nucleus of research located in Bahia is currently a platform of the Cidacs. Its main objective is to study the association between complex diseases and the genetic variants found in the Brazilian population, taking into account one of the most important characteristics of this population: its diversity. The data available refer to the broad genotyping of 6,487 individuals and the high resolution sequencing of the complete genome of 30 individuals from three Brazilian population-based cohorts: Salvador (BA), Bambuí (MG) and Pelotas (RS).

The contributions envisaged in the Epigen project include:
a) to examine the genomic variability of cohort participants and compare it to that observed in European or European populations; b) examine how genomic ancestry varies in these populations and how miscegenation has shaped their genome;
c) verify the existence of an association between ancestry and complex diseases;
d) to examine the association between genetic architecture and complex diseases in a mixed population.

A short-term Epigen product will be the development of panels of SNPs suitable for this mixed population to guide future research on genomic epidemiology in the country. Data collected at the baseline and along the cohort follow-ups, plus genomic scans, allow us to examine associations between the genetic architecture and several outcome variables, considering mediators and confounders, with unlimited possibilities of combinations. The use of this information (already existing) implies enormous savings of time and costs.
Finally, this project will contribute in an agile and effective way for the training of human resources in genomic epidemiology and for the development of bioinformatic tools for these studies, being able to constitute a training nucleus in the area.

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