Genetic & Genomic MedicinemedRxivPreprint
Integrating breast tumor homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification
Cristina Fortuño, Jia Zhang, Lambros T. Koufariotis…·Nicola Waddell
This paper integrates tumor homologous recombination deficiency status with germline BRCA1 and BRCA2 variant classification to improve pathogenicity prediction.
DOI 10.1101/2025.06.12.25329237