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RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis

Maud Privat1,2, Flora Ponelle-Chachuat1,2, Sandrine Viala1,2

  • 1Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont-Ferrand, France.

Human Mutation
|April 14, 2025
PubMed
Summary

RNA sequencing of blood samples helps classify variants of unknown significance (VUSs) in cancer genetics. This method aids in identifying pathogenic variants impacting mRNA splicing, improving genetic diagnoses for patients.

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