A workflow for clinical profiling of BRCA genes in Chilean breast cancer patients via targeted sequencing
Evelin Gonzalez, Rodrigo Moreno Salinas, Manuel Muñoz, Soledad Herrera, Mylene Cabrera Morales, Pastor Jullian, Waleska Ebner Durrels, Gonzalo Vigueras Stari, Javier Anabalón Ramos, Juan Francisco Miquel, Lilian Jara S, Carol Moraga, Alex Di Genova
The paper develops a Nextflow pipeline for BRCA1/2 variant detection in Chilean breast cancer patients using targeted sequencing and variant callers, identifying one pathogenic variant among 16 samples.
medRxiv · Sep 25, 2024 · PreprintGenetic & Genomic Medicine