A new study presents a deep learning approach for predicting the pathogenicity of rare missense variants in cancer predisposition genes. This research could enhance genetic testing and risk assessment for patients with hereditary cancer syndromes.
disease and gene specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes
Original title: “Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.”