Fig. 1
From: SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
The delta score (DS) pitfall: discrepancy between SpliceAI’s DS and SpliceAI raw scores (RS). SpliceAI-visual outputs of SCN1A deep intronic variant displayed in IGV. Above: SpliceAI raw scores for the reference allele of SCN1A; below: SpliceAI RS for the pathogenic deep intronic variant NM_001165963.4(SCN1A):c.4002 + 2461 T > C functionally attested to cause the retention of an intronic retention of 64pb[REF]. Orange: acceptor site prediction; Blue: donor site prediction. The variant position is highlighted in yellow