Fig. 2
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 MFGE8 deep intronic variant displayed in IGV. Above: SpliceAI RS for the reference allele of MFGE8; below: SpliceAI RS for the pathogenic variant NM_005928.4(MFGE8):c.871-803A > G functionally attested to cause the exonization of an intronic sequence containing a stop codon (red). Orange: acceptor site prediction; Blue: donor site prediction. The variant position is pointed by a dashed line