SELAdb

SELAdb provides a population-specific genomic variant database aggregating exonic variant data from Brazilian individuals to improve representation for molecular diagnostics and genetic research.

Key Features:

• Population-Specific Data: SELAdb comprises exonic variant data from 523 unrelated individuals, including patients and family members managed by clinics at HCFMUSP, reflecting the heterogeneous, mixed-ancestry profile of the Brazilian population similar to Latin American cohorts.
• Enhanced Diagnostic Accuracy: The database enables filtering of common polymorphisms and identification of clinically relevant pathogenic variants in the Brazilian population to improve molecular diagnostics.
• Identification of Novel Variants: SELAdb contains known and potentially novel pathogenic variants associated with highly penetrant Mendelian disorders observed within the cohort.

Scientific Applications:

• Molecular Diagnostics: Provide a population-matched reference for interpreting variants in clinical genetic testing of Brazilian patients.
• Genetic Research: Support studies of genetic diversity and disease-associated variants within Brazilian and broader Latin American populations.
• Personalized Medicine: Inform population-specific assessments of genetic risk and potential influences on treatment response.

Methodology:

Data were generated by high-throughput sequencing of genomes, exomes, and disease-focused gene panels from individuals treated at HCFMUSP and compared with other publicly available genomic databases.