MAJIQ V3 offers improvements in accuracy, performance, and usability for splicing analysis from RNA sequencing

Abstract

AbstractSummaryRNA splicing plays important roles in cell-type-specific expression of gene isoforms and is causally linked to numerous diseases. Previously, our group developed MAJIQ V1 and V2 for RNA splicing detection, quantification, and visualization from RNA sequencing. Here we report an update, MAJIQ V3, that offers several improvements in time, memory, accuracy, and usability. We demonstrate the benefits of MAJIQ V3 using GTEx data for different analysis scenarios involving different dataset sizes.