SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

CONCLUSIONS: Currently, our database comprises a final cohort of 523 unrelated individuals, including patients or fa mily members managed by different clinics of HCFMUSP. We compared SELAdb with other publicly available genomic databases and demonstrated that this population is very heterogeneous, largely resembling Latin American individuals of mixed origin, rather than individuals of pure European ancestry. Inte restingly, exclusively through SELAdb, we identified a spectrum of known and potentially novel pathogenic variants in genes associated with highly penetrant Mendelian disorders, illustrating that pathogenic variants circulating in the Brazilian population that is treated in our clinics are underrepr esented in other population databases. SELAdb is freely available for public consultation at: http://intranet.fm.usp.br/sela
Source: Clinics - Category: General Medicine Source Type: research