The current diagnostic rate for patients with suspected Mendelian genetic disorders is low, despite exome/genome sequencing (ES/GS) being the standard of care. One reason for this low diagnostic rate is that traditional ES/GS analysis methods struggle to detect RNA splicing aberrations. Causative variants often involve splicing changes, with numerous splice-altering variants being responsible for known Mendelian disorders. It is therefore crucial to develop reliable tools to detect, quantify, prioritize, and visualize RNA splicing aberrations from patient RNA sequencing.