The EPIGEN-Brasil Initiative is so far the largest Latin American initiative in population genomics and genetic epidemiology. Its main goal is to study the association between genetic variants found in complex diseases and the Brazilian population, taking into account one of the most important characteristics of this population: its admixture. Populational data is here represented by the genotyping and sequencing of 6,487 individuals from three Brazilian cohorts: Salvador, Bambuí and Pelotas. Whole genome sequencing data was adquired for 30 samples, 10 from each cohort.
In order to study the genetic variants found in the Brazilian population, the EPIGEN-Brasil initiative focused on three different approaches: 1) genotyping of 4.3 million SNPs (HumanOmni5) for 270 samples; 2) genotyping of 2.3 million SNPs (HumanOmni2.5) for 6496 samples; and 3) whole genome sequencing for 30 samples, 10 from each cohort, which were obtained through paired-end reads strategy using Illumina's company technology.
The individuals in this study belong to three of the main populational-based Brazilian cohorts: Salvador (n=1309), Bambui (n=1442) and Pelotas (n=3736), from Northeast, Southeast and Southern Brazil respectively. They have collected data of clinical and biomedical interest for more than 10 years for each of the participants.