Research and Innovation

Genomes of Brazilian populations

The reduction in costs of genetic analyses, especially with next generation sequencing techniques, has become feasible the genetic collection and analysis of cohorts with hundreds of thousands of individuals.

Besides building tools that help in diagnoses by studying the frequency of candidate variants associated with rare genetic diseases, these cohorts enable risk estimation for prevalent diseases with a multi-factor etiology.

HUG-CELL is engaged in research on this topic, including the largest Brazilian public database of variants and allelic frequencies, the Brazilian Online Archive of Mutations (ABraOM). We also conduct studies on polygenic risk scores for common phenotypes and modifiers.