Fig. 2

Introme’s pipeline for identifying splice-altering variants. A Introme’s scoring process from an input VCF, variants from protein coding genes are filtered before annotating. Variants are subsequently filtered based on populational allele frequency, scored through several splice prediction tools, before feeding through the Introme decision tree model to give a final splice-altering score. B If a variant has a score above the Introme threshold, a sashimi plot of the region can be generated using ggsashimi [26] if a complementary RNA-seq BAM file is available