Research Article

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View

Table 1

Summary of evaluation measures for 7 in silico tools for all splice sites.

In silico toolsAUC (95% CI)CutoffTPFPTNFNSensitivitySpecificity

SpliceAI0.991 (0.980–1.002)0.0214826220.9870.969
SpliceRover0.944 (0.912–0.977)0.01074614985690.9430.875
SPiCE0.916 (0.879–0.954)0.0442492361180.8360.953
MES0.912 (0.878–0.946)0.063125126260260.8290.968
NNSplice0.895 (0.857–0.934)01261250220.8510.806
SSF0.889 (0.854–0.924)0121460310.7960.937
HSF0.782 (0.740–0.824)075064580.5641

Abbreviations: AUC, area under the curve; TP, true positives; FP, false positives; TN, true negatives; FN, false negatives.