Author
Hospital Israelita Albert EinsteinORCID 0000-0001-9388-8173Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Eduardo Perrone, Luiza do Amaral Virmond, Antônio Victor Campos Coelho…·Tatiana Ferreira de Almeida
The paper analyzes ACMG secondary findings in 5,402 Brazilian genomes, finding 3.6% had pathogenic variants, mainly in cardiovascular and cancer-related genes.
Jarbas Maciel de Oliveira, Nuria Bengala Zurro, Antônio Victor Campos Coelho…·João Bosco Oliveira
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.
Antônio Victor Campos Coelho, Bruna Mascaro-Cordeiro, Danielle Ribeiro Lucon…·João Bosco Oliveira
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.