Nuria Bengala Zurro

This study evaluates the diagnostic yield of whole-genome sequencing in 8966 patients with suspected rare diseases, finding a 35.8% diagnostic rate and additional variant detection.

This study analyzes germline variants in 1682 Brazilian patients with cancer histories, identifying 321 pathogenic/likely pathogenic variants across 32 genes and highlighting gaps in current genetic testing guidelines.

The paper validates a whole genome sequencing protocol for diagnosing rare diseases in Brazil, showing high accuracy for SNVs and indels but limitations in detecting certain structural variants.