Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling (CGP) of cancers. This framework could improve the accuracy of precision oncology by more reliable prioritization of VUS.
Comprehensive genomic profiling (CGP) enables comprehensive detection of genomic alterations across a wide range of cancer types and facilitates access to genome-matched therapies. However, it also poses a major challenge: a growing number of variants of uncertain significance (VUS)-genetic changes whose clinical impact remains unclear-which require careful interpretation and clinical management. In clinical genetics, the term variant is preferred over “