Collaborator: Kaiser Permanente San Jose Medical Center

• De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

• 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…