| Configuration: At least 2 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. | 0.907 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 2 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 F26; row AtLeast2, column F1 |
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| Configuration: At least 2 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. | 0.833 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 2 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 H26; row AtLeast2, column Neg Pred Value |
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| Configuration: At least 2 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. | 0.895 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 2 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 G26; row AtLeast2, column Pos Pred Value |
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| Configuration: At least 2 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. | 0.895 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 2 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 E26; row AtLeast2, column Precision |
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| Configuration: At least 2 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. | 0.919 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 2 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 C26; row AtLeast2, column Sensitivity (Recall) |
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| Configuration: At least 2 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. | 0.789 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 2 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 D26; row AtLeast2, column Specificity |
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| Configuration: At least 2 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 | 0.878 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 2 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 F39; row AtLeast2, column F1 |
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| Configuration: At least 2 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 | 0.831 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 2 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 H39; row AtLeast2, column Neg Pred Value |
|---|
| Configuration: At least 2 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 | 0.844 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 2 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 G39; row AtLeast2, column Pos Pred Value |
|---|
| Configuration: At least 2 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 | 0.844 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 2 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 E39; row AtLeast2, column Precision |
|---|
| Configuration: At least 2 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 | 0.915 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 2 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 C39; row AtLeast2, column Sensitivity (Recall) |
|---|
| Configuration: At least 2 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 | 0.71 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 2 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 D39; row AtLeast2, column Specificity |
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| Configuration: At least 2 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 | 0.885 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 2 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 F13; row AtLeast2, column F1 |
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| Configuration: At least 2 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 | 0.831 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 2 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 H13; row AtLeast2, column Neg Pred Value |
|---|
| Configuration: At least 2 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 | 0.855 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 2 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 G13; row AtLeast2, column Pos Pred Value |
|---|
| Configuration: At least 2 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 | 0.855 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 2 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 E13; row AtLeast2, column Precision |
|---|
| Configuration: At least 2 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 | 0.916 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 2 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 C13; row AtLeast2, column Sensitivity (Recall) |
|---|
| Configuration: At least 2 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 | 0.727 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 2 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 D13; row AtLeast2, column Specificity |
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