Fig. 4: Pathogenic variants identified in a consecutive cohort of 1000 patients analyzed by paired DNA and RNA genetic testing.

All PSI values shown were significantly higher than the mean control PSI (one-sample two-sided t test, p < 1 × 10⁻⁵⁵). a PSI for variant-associated r dot, shown in red, compared to boxplot representing median and interquartile range of PSI for healthy controls, if applicable (outlier points are not shown). b Sashimi plot of BRCA1 r. r.80_81ins81-8_81-1 indicating coverage and junction reads supporting the 8 bp partial intronic insertion. Patient plot is tuna-colored, whereas control plot is salmon colored. c Sashimi plot of BRCA1 r.5075_5152del indicating coverage and junction reads supporting the coding exon 16 skipping. d Sashimi plot of BRCA2 r.426_475del indicating coverage and junction reads supporting the coding exon 4 skipping. e Sashimi plot of ATM r.8269_8418del indicating coverage and junction reads supporting the coding exon 56 skipping. f Sashimi plot of ATM r.3061_3077del indicating coverage and junction reads supporting the partial skipping of coding exon 19. g Sashimi plot of MUTYH r.576_577ins577-4_577-1 indicating coverage and junction reads supporting the partial intron 7 retention. h Sashimi plot of PMS2 r.11_23del indicating coverage and junction reads supporting the partial skipping of coding exon 1.