Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts
Mwenda R. Rintari, V. Kartik Chundru, Carolina Jaramillo Oquendo, Joseph S. Leslie, Alistair T. Pagnamenta, Diana Baralle, Caroline Fiona Wright
The paper investigates missense spliceogenic variants (MSVs) using genomic and proteomic data, finding they are common and can cause disease through splicing disruption, often missed by protein-centric tools.
medRxiv · Oct 13, 2026 · PreprintGenetic & Genomic Medicine