Cancer BiologybioRxiv
DNA Repair Function Scores for 2172 Variants in the BRCA1 Amino-Terminus
M. Diabate, M. M. Islam, G. Nagy…·J. D. Parvin
The paper presents functional scores for 2172 BRCA1 variants using a multiplexed HDR assay, showing 93% sensitivity and 100% specificity in classifying pathogenic and benign variants.
DOI 10.1371/journal.pgen.1010739