Agnès Hardouin

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

NBS1 lactylation is required for efficient DNA repair and chemotherapy resistance

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes