See Figure 2 for overview of prioritization process to detect 33 putative SRE-disrupting variants, and 250 non-spliceogenic negative control variants; and Supplementary Table 3 for detailed scores and cut-offs.
For secondary analysis, false positive variants located in exons with no mapped SREs were designated as true negatives.
Table 5. Spliceogenic variants in hereditary cancer genes reported to abrogate a BP site or activate a pseudoexon