| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.977 Balanced accuracy (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'CI-SpliceAI', column 'Balanced Accuracy' |
|---|
| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.974 F1 (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'CI-SpliceAI', column 'F1' |
|---|
| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.958 Recall (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'CI-SpliceAI', column 'Sensitivity' |
|---|
| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.997 Specificity (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'CI-SpliceAI', column 'Specificity' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.942 Balanced accuracy (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'Legacy Ensemble', column 'Balanced Accuracy' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.902 F1 (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'Legacy Ensemble', column 'F1' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.926 Recall (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'Legacy Ensemble', column 'Sensitivity' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.959 Specificity (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'Legacy Ensemble', column 'Specificity' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.965 Balanced accuracy (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'OpenSpliceAI', column 'Balanced Accuracy' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.961 F1 (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'OpenSpliceAI', column 'F1' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.932 Recall (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'OpenSpliceAI', column 'Sensitivity' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.998 Specificity (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'OpenSpliceAI', column 'Specificity' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.973 Balanced accuracy (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'SpliceAI', column 'Balanced Accuracy' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.969 F1 (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'SpliceAI', column 'F1' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.948 Recall (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'SpliceAI', column 'Sensitivity' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) (Fortier et al. Table 5)
Dataset: Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) | 0.997 Specificity (maximum delta score > 0.5 (Legacy Ensemble N > 1)) 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 Barbosa et al. ClinVar intronic SNV benchmark (53,600 variants) rna-splicing-20261011-fortier2026-protocol-barbosa-clinvar Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 5, row 'SpliceAI', column 'Specificity' |
|---|