Fig. 4

Comparison of the two top-scoring splice prediction tools: Introme and SpliceAI. A Introme and SpliceAI score comparison for validated splice-altering variants (positive held-out validation set—blue) and validated non-splice-altering variants (negative held-out validation set—orange). Thresholds represented by dotted lines (Introme: 0.83, SpliceAI: 0.27) correspond to a sensitivity of 0.80. Shaded regions represent the regions with both predictors classifying a variant as splice-altering (blue) or both classifying a variant as not affecting splicing (orange). B The false positive rates for Introme and SpliceAI at a range of sensitivities. Corresponding thresholds at a given sensitivity are shown above the bar