Publication

A workflow for clinical profiling of BRCA genes in Chilean breast cancer patients via targeted sequencing

Evelin Gonzalez, Rodrigo Moreno Salinas, Manuel Muñoz, Soledad Lantadilla Herrera, Mylene Cabrera Morales, Pastor Jullian, Waleska Ebner Durrels, Gonzalo Vigueras Stari, Javier Anabalon Ramos, Juan Francisco Miquel

September 2024 medRxiv
Abstract

Study summary

This work presents a reproducible Nextflow workflow for targeted sequencing analysis of BRCA1 and BRCA2 in Chilean breast cancer patients. The pipeline integrates germline variant calling, annotation, and clinical interpretation to support precision oncology implementation in local public-health settings.