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.
Sequencing whole genomes across multiple samples in a population provides an unprecedented opportunity for comprehensively characterize polymorphic variants in a population. Studying private variants of some populations, in particular admixed ones, are necessary in order to catalogue the human genome diversity, especially those related to complex diseases. For the EPIGEN whole genome sequencing, data quality is on average 42 X (mean coverage), in which 128 GB (on average) of bases successfully passed filter and aligned to the reference genome (HumanNCBI37_UCSC).