Fig. 7
From: SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
Scaling down the PVS1 criteria of a canonical splice site variant in TTN. RNAseq and SpliceAI-visual outputs displayed in IGV showing the predicted exon skipping (top view), and the in-frame rescue (bottom view). Top tracks: SpliceAI RS for the reference allele of TTN along with RNAseq from 2 controls; bottom tracks: SpliceAI RS for the NM_001267550.2(TTN):c.31349-1G > C along with RNAseq of patient 4