To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intron...
BACKGROUND & AIMS: Microsatellite instability (MSI) and mismatch-repair deficiency (dMMR) in colorectal tumors are used to select treatment for patients. Deep learning can detect MSI and dMMR in tumor samples on routine histology slides faster and le...
Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing due to mutation lead to dysregulated protein expression and contribute to a substantial fraction of human disease. Several classes of splicing modulator compound...
International journal of molecular sciences
38255924
Pathogenic variation in DNA mismatch repair (MMR) gene is associated with Lynch syndrome (LS), an autosomal dominant hereditary cancer. Of the 3798 germline variants collected in the ClinVar database, 38.7% (1469) were missense variants, of which 8...