Publications by authors named "Wagner Rosa Baratela"
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Ana Lígia Buzolin Caroline Mônaco Moreira Patricia Rossi Sacramento Andre Yuji Oku Alexandre Ricardo Dos Santos Fornari Wagner Rosa Baratela
Hum Genomics
June 2017
Article Synopsis
- Breast cancer is the most prevalent cancer among women, while ovarian cancer is hard to diagnose, with BRCA1 and BRCA2 mutations significantly raising the risk for both types of cancer.
- A study evaluated a customized panel for detecting mutations in the BRCA genes using a specific sequencing platform, achieving a high sensitivity of 95.6% and complete agreement with previous tests from Myriad Genetics.
- The research emphasizes the importance of using reliable methods for sample preparation and data analysis in enhancing test sensitivity and reproducibility, while also recognizing the need to address challenges associated with next-generation sequencing techniques in clinical settings.