| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1)
Dataset: CAGI6 Splicing VUS variants as scored by Drost et al. | 0.854 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell F25; row AtLeast1, column F1 |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1)
Dataset: CAGI6 Splicing VUS variants as scored by Drost et al. | 0.818 negative-predictive-value fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell H25; row AtLeast1, column Neg Pred Value |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1)
Dataset: CAGI6 Splicing VUS variants as scored by Drost et al. | 0.778 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell G25; row AtLeast1, column Pos Pred Value |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1)
Dataset: CAGI6 Splicing VUS variants as scored by Drost et al. | 0.778 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell E25; row AtLeast1, column Precision |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1)
Dataset: CAGI6 Splicing VUS variants as scored by Drost et al. | 0.946 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell C25; row AtLeast1, column Sensitivity (Recall) |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1)
Dataset: CAGI6 Splicing VUS variants as scored by Drost et al. | 0.474 specificity fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell D25; row AtLeast1, column Specificity |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, in-house diagnostic cohort (Drost et al. Data S1)
Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset | 0.832 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on in-house scorable variants (count not printed) rna-splicing-20261009-protocol-drost2025-inhouse Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'In House dataset', cell F38; row AtLeast1, column F1 |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, in-house diagnostic cohort (Drost et al. Data S1)
Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset | 0.871 negative-predictive-value fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on in-house scorable variants (count not printed) rna-splicing-20261009-protocol-drost2025-inhouse Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'In House dataset', cell H38; row AtLeast1, column Neg Pred Value |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, in-house diagnostic cohort (Drost et al. Data S1)
Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset | 0.731 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on in-house scorable variants (count not printed) rna-splicing-20261009-protocol-drost2025-inhouse Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'In House dataset', cell G38; row AtLeast1, column Pos Pred Value |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, in-house diagnostic cohort (Drost et al. Data S1)
Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset | 0.731 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on in-house scorable variants (count not printed) rna-splicing-20261009-protocol-drost2025-inhouse Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'In House dataset', cell E38; row AtLeast1, column Precision |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, in-house diagnostic cohort (Drost et al. Data S1)
Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset | 0.966 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on in-house scorable variants (count not printed) rna-splicing-20261009-protocol-drost2025-inhouse Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'In House dataset', cell C38; row AtLeast1, column Sensitivity (Recall) |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, in-house diagnostic cohort (Drost et al. Data S1)
Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset | 0.391 specificity fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on in-house scorable variants (count not printed) rna-splicing-20261009-protocol-drost2025-inhouse Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'In House dataset', cell D38; row AtLeast1, column Specificity |
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| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, all 243 scorable variants (Drost et al. Data S1)
Dataset: Drost et al. RNA-tested clinical variants plus CAGI6 Splicing VUS, 243 scorable | 0.837 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 243 scorable variants (in-house plus CAGI6) rna-splicing-20261009-protocol-drost2025-merged-243 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'Entire Dataset', cell F12; row AtLeast1, column F1 |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, all 243 scorable variants (Drost et al. Data S1)
Dataset: Drost et al. RNA-tested clinical variants plus CAGI6 Splicing VUS, 243 scorable | 0.857 negative-predictive-value fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 243 scorable variants (in-house plus CAGI6) rna-splicing-20261009-protocol-drost2025-merged-243 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'Entire Dataset', cell H12; row AtLeast1, column Neg Pred Value |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, all 243 scorable variants (Drost et al. Data S1)
Dataset: Drost et al. RNA-tested clinical variants plus CAGI6 Splicing VUS, 243 scorable | 0.741 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 243 scorable variants (in-house plus CAGI6) rna-splicing-20261009-protocol-drost2025-merged-243 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'Entire Dataset', cell G12; row AtLeast1, column Pos Pred Value |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, all 243 scorable variants (Drost et al. Data S1)
Dataset: Drost et al. RNA-tested clinical variants plus CAGI6 Splicing VUS, 243 scorable | 0.741 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 243 scorable variants (in-house plus CAGI6) rna-splicing-20261009-protocol-drost2025-merged-243 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'Entire Dataset', cell E12; row AtLeast1, column Precision |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, all 243 scorable variants (Drost et al. Data S1)
Dataset: Drost et al. RNA-tested clinical variants plus CAGI6 Splicing VUS, 243 scorable | 0.961 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 243 scorable variants (in-house plus CAGI6) rna-splicing-20261009-protocol-drost2025-merged-243 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'Entire Dataset', cell C12; row AtLeast1, column Sensitivity (Recall) |
|---|
| Configuration: At least 1 of 4 splice predictors (Drost et al.) | Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, all 243 scorable variants (Drost et al. Data S1)
Dataset: Drost et al. RNA-tested clinical variants plus CAGI6 Splicing VUS, 243 scorable | 0.409 specificity fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceAt least 1 of 4 splice predictors on 243 scorable variants (in-house plus CAGI6) rna-splicing-20261009-protocol-drost2025-merged-243 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'Entire Dataset', cell D12; row AtLeast1, column Specificity |
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