Collaborator: Medical College of Wisconsin

• Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

  Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a…

• Practical applications of RNA genetic testing for variant detection and interpretation: A case series

  RGT improves the accuracy of hereditary genetic testing via better detection and interpretation of variants.  RNA data can be used as evidence both in support of pathogenicity and as clarification of benign variants. RGT is an especially powerful tool for classification in moderate penetrance genes, and in the identification of novel pathogenic variant

  April 2, 2026

• Observation of cancers other than breast in monoallelic ATM gene mutation carriers and their families

  April 2, 2026