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.
Human Genome and Stem Cell Research Center – HUG-CELL
Rua do Matão - Travessa 13, n. 106
05508-090 - São Paulo -SP
Telephone numbers: (11) 3091-7966 / 3091-0878
WhatsApp, messages only: (11) 2648-8358 How to get to HUG-CELL