| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.895 Balanced accuracy (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCI-SpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'CI-SpliceAI', column 'Balanced Accuracy' |
|---|
| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.876 F1 (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCI-SpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'CI-SpliceAI', column 'F1' |
|---|
| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.8 Recall (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCI-SpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'CI-SpliceAI', column 'Sensitivity' |
|---|
| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.991 Specificity (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCI-SpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'CI-SpliceAI', column 'Specificity' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.809 Balanced accuracy (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceLegacy Ensemble on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'Legacy Ensemble', column 'Balanced Accuracy' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.684 F1 (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceLegacy Ensemble on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'Legacy Ensemble', column 'F1' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.832 Recall (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceLegacy Ensemble on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'Legacy Ensemble', column 'Sensitivity' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.787 Specificity (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceLegacy Ensemble on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'Legacy Ensemble', column 'Specificity' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.895 Balanced accuracy (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceOpenSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'OpenSpliceAI', column 'Balanced Accuracy' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.877 F1 (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceOpenSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'OpenSpliceAI', column 'F1' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.799 Recall (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceOpenSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'OpenSpliceAI', column 'Sensitivity' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.992 Specificity (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceOpenSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'OpenSpliceAI', column 'Specificity' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.889 Balanced accuracy (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'Balanced Accuracy' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.865 F1 (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'F1' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.791 Recall (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'Sensitivity' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants) | 0.987 Specificity (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSpliceAI on the Extended ClinVar benchmark (58,064 variants) rna-splicing-20261011-fortier2026-protocol-extended-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'Specificity' |
|---|