Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.

ABSTRACT: In precision medicine, DNA-based assays are currently necessary but not always sufficient for predicting therapeutic efficacy of cancer drugs based on the mutational findings in a patient's tumor specimen. Most drugs target proteins, but it is challenging and not yet cost-effective to perform high-throughput proteomics profiling, including mutational analysis, on cancer specimens. RNA may be an effective mediator for bridging the "DNA to protein divide" and provide more clarity and therapeutic predictability for precision oncology. While RNA sequencing (RNA-seq) has been increasingly used alongside DNA cancer mutation screening panels to assess the impact of variants on gene transcript expression and splicing, comprehensive evaluations of RNA panels and the integration of expressed mutatio

SUBMITTER: Li D 

PROVIDER: S-EPMC12166063 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature