The LSVs with high E(dPSI) value (>0.3) consisted of several misspliced exons that were previously identified in the DM1 brain (MAPT exon 2, MBNL2 exon 8 and CLASP2 exon 23),16,19,53 indicating the validity of our analysis (Table 2, Fig. 5A and Supplementary Fig. 8A). This evidence concerns the gene MAPT and myotonic dystrophy type 1.