| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.794 Balanced accuracy (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'CI-SpliceAI', column 'Balanced Accuracy' |
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| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.785 F1 (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'CI-SpliceAI', column 'F1' |
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| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.706 Recall (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'CI-SpliceAI', column 'Sensitivity' |
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| Configuration: CI-SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.883 Specificity (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'CI-SpliceAI', column 'Specificity' |
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| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.659 Balanced accuracy (threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'Legacy Ensemble', column 'Balanced Accuracy' |
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| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.609 F1 (threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'Legacy Ensemble', column 'F1' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.5 Recall (threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'Legacy Ensemble', column 'Sensitivity' |
|---|
| Configuration: Legacy Ensemble (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.817 Specificity (threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'Legacy Ensemble', column 'Specificity' |
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| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.746 Balanced accuracy (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'OpenSpliceAI', column 'Balanced Accuracy' |
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| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.741 F1 (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'OpenSpliceAI', column 'F1' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.672 Recall (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'OpenSpliceAI', column 'Sensitivity' |
|---|
| Configuration: OpenSpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.819 Specificity (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'OpenSpliceAI', column 'Specificity' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.836 Balanced accuracy (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'SpliceAI', column 'Balanced Accuracy' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.839 F1 (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'SpliceAI', column 'F1' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.79 Recall (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'SpliceAI', column 'Sensitivity' |
|---|
| Configuration: SpliceAI (Fortier et al. 2026) | Protocol: Splice-altering variant classification, Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) (Fortier et al. Table 2)
Dataset: Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) | 0.883 Specificity (delta score for each variant's effect type; threshold optimised per gene and algorithm for maximum accuracy (upper bound)) 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 Riepe et al. functional splice assay variants (213 variants, ABCA4 and MYBPC3) rna-splicing-20261011-fortier2026-protocol-riepe Aggregation: Not reported Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 2, row 'SpliceAI', column 'Specificity' |
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