Figure 3.

Summary of the overlap and correlations observed between the scores from in silico splicing prediction algorithms for 18,013 unique rare variants identified in a large cohort of 2783 individuals with rare disease undergoing genetic testing, specifically for syndromic and non-syndromic inherited retinal disorders. (a) Bar chart showing overall count of unique variants prioritized using pre-defined thresholds for each in silico prediction algorithm; (b) Overlap between the unique variants prioritized by the five most correlated in silico prediction tools; (c) Grouped bar chart demonstrating the overlap of variants prioritized by each tool segregated by the region of the genome that the variant impacts, as defined by Jagadeesh et al.¹⁶, demonstrating that variants prioritized by many tools are highly likely to be close the canonical splice sites (5′core, 3′core and 5′extended); (d) Correlation between SpliceAI score and the number of additional tools also prioritizing the variant for the 528 unique rare variants prioritized by SpliceAI.