Skip to main content
. 2024 Dec 4;7:1616. doi: 10.1038/s42003-024-07298-9

Fig. 3. Classification performance for detecting sQTLs in the Icelandic RNA-Seq using Transformer-45k and pre-trained SpliceAI-10k.

Fig. 3

a PR-AUC plotted against maximum distance from an sQTL to the closest splice site annotation. b Precision-recall curve for sQTLs determined to be splice-disrupting or splice-creating. c Precision-recall curve for 35,464 pathogenic splice variants in ClinVar. d A scatter plot showing the distribution of delta scores for non-splicing variants (n = 40,528), benign splice variants (n = 1001), and pathogenic splice variants (n = 35,464).