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

ABSTRACT:

Objectives

High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant among thousands of genetic polymorphisms is a challenging task. Publicly available genomic databases are useful resources to filter out common genetic variants present in the population and enable the identification of each disease-causing variant. Based on our experience applying these technologies at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), São Paulo, Brazil, we recognized that the Brazilian population is not adequately represented in widely available genomic databases.

Methods

Here, we took advantage of our 5-yea

SUBMITTER: Lerario AM 

PROVIDER: S-EPMC7410354 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature