Supplementary Figure 5: S-CAP performance in 3′-core and 5′-core regions without zygosity feature.
From: S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing
The size of training and testing data for each model is specified in Table 3 in the rows corresponding to 3′ Core and 5′ Core regions. Our model without the zygosity feature outperforms existing metrics in the 3′ core and 5′ core regions by up to 23.4% in AUC and by up to 36% in the hsrAUC. The performance in 3′ core region is slightly better than in the 5′ core region. Incorporating the variant zygosity feature boosts classification performance by 5.4% (Fig. 2, Supplementary Fig. 4).
