Fig. 11

Overall correlation between FLGSA findings and SpliceAI predictions across all exons of the SPINK1 gene. On the y-axis, "Highest DS" represents the highest Δ score among the four SpliceAI predictions for each of the 67 SPINK1 variants analyzed through the full-length gene splicing assay (refer to Table 1 for details). The x-axis categorizes the variants based on their transcript outcomes: "No" for variants exclusively producing normally spliced transcripts, "Partial" for variants leading to a mix of normally and aberrantly spliced transcripts, and "Complete" for variants solely resulting in aberrantly spliced transcripts. Δ scores of 0.90 and 0.30 are demarcated with thicker dotted lines to denote thresholds for exclusive generation of aberrantly spliced or normally spliced transcripts, respectively