Dataset

Drost et al. RNA-tested clinical variants plus CAGI6 Splicing VUS, 243 scorable

Variants tested for splicing in patient RNA (RT-PCR) or exon trapping in a Dutch diagnostic laboratory, merged with the CAGI6 Splicing VUS set, restricted to variants scored by all four tools.

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Release 2026-10-09-ba02f2f4a36e · Evidence verified: Not verified

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Evaluation results

8 evaluations · 56 results. Different protocols are not a single leaderboard.

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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
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 checked Methods, coverage and source At 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
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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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
Configuration: At least 3 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	0.859 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 3 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 F14; row AtLeast3, column F1
Configuration: At least 3 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	0.73 negative-predictive-value fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 3 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 H14; row AtLeast3, column Neg Pred Value
Configuration: At least 3 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	0.895 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 3 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 G14; row AtLeast3, column Pos Pred Value
Configuration: At least 3 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	0.895 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 3 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 E14; row AtLeast3, column Precision
Configuration: At least 3 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	0.826 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 3 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 C14; row AtLeast3, column Sensitivity (Recall)
Configuration: At least 3 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	0.83 specificity fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 3 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 D14; row AtLeast3, column Specificity
Configuration: At least 4 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	0.77 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 4 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 F15; row AtLeast4, column F1
Configuration: At least 4 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	0.602 negative-predictive-value fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 4 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 H15; row AtLeast4, column Neg Pred Value
Configuration: At least 4 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	0.927 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 4 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 G15; row AtLeast4, column Pos Pred Value
Configuration: At least 4 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	0.927 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 4 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 E15; row AtLeast4, column Precision
Configuration: At least 4 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	0.658 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 4 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 C15; row AtLeast4, column Sensitivity (Recall)
Configuration: At least 4 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	0.909 specificity fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source At least 4 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 D15; row AtLeast4, column Specificity
Configuration: Pangolin (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	0.943 auprc fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Pangolin 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 S3 'Entire Dataset', cell D10; row Pangolin, column AUPRC

Source checking is not independent reproduction. Release 2026-10-09-ba02f2f4a36e.

Dataset and evaluation context

A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.

Evidence

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

14 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-09-ba02f2f4a36e
Property and statement	Original source and location	Review and provenance
attributes.population 202 in-house variants tested 2015-2023 in patient or relative RNA (RT-PCR, Sanger) and/or exon trapping, plus 56 CAGI6 Splicing VUS challenge variants; 243 variants scored by all four tools, including all 56 CAGI6 variants. Context-only references	Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML Retrieved: 2026-10-09T20:30:41Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.population` Source artifact SHA-256: `2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.population 202 in-house variants tested 2015-2023 in patient or relative RNA (RT-PCR, Sanger) and/or exon trapping, plus 56 CAGI6 Splicing VUS challenge variants; 243 variants scored by all four tools, including all 56 CAGI6 variants. Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: mmc2.xlsx (Data S1. Tables S1-S6) inside the Europe PMC supplementaryFiles zip for PMC12547740 Retrieved: 2026-10-09T20:31:37Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.population` Source artifact SHA-256: `a3a69202b8f0d9ecb7fa22a16991d5e4d583b5ae72fd598206ea5c2b4c5c14ca` Hash scope: SHA-256 of mmc2.xlsx as extracted from the supplementaryFiles zip (zip SHA-256 1c89a7ebc0bf686c6087d0fee86ba6f364a6d754d5bc7eb9c446b7db017f1ebc; the zip is re-built by Europe PMC on each request, so only the member hash is stable). Inspected artifact
attributes.source_locator Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Context-only references	Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML Retrieved: 2026-10-09T20:30:41Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.source_locator` Source artifact SHA-256: `2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.source_locator Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: mmc2.xlsx (Data S1. Tables S1-S6) inside the Europe PMC supplementaryFiles zip for PMC12547740 Retrieved: 2026-10-09T20:31:37Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.source_locator` Source artifact SHA-256: `a3a69202b8f0d9ecb7fa22a16991d5e4d583b5ae72fd598206ea5c2b4c5c14ca` Hash scope: SHA-256 of mmc2.xlsx as extracted from the supplementaryFiles zip (zip SHA-256 1c89a7ebc0bf686c6087d0fee86ba6f364a6d754d5bc7eb9c446b7db017f1ebc; the zip is re-built by Europe PMC on each request, so only the member hash is stable). Inspected artifact
attributes.split No training split; evaluation of pretrained or rule-based predictors on the whole set Context-only references	Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML Retrieved: 2026-10-09T20:30:41Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.split` Source artifact SHA-256: `2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.split No training split; evaluation of pretrained or rule-based predictors on the whole set Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: mmc2.xlsx (Data S1. Tables S1-S6) inside the Europe PMC supplementaryFiles zip for PMC12547740 Retrieved: 2026-10-09T20:31:37Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.split` Source artifact SHA-256: `a3a69202b8f0d9ecb7fa22a16991d5e4d583b5ae72fd598206ea5c2b4c5c14ca` Hash scope: SHA-256 of mmc2.xlsx as extracted from the supplementaryFiles zip (zip SHA-256 1c89a7ebc0bf686c6087d0fee86ba6f364a6d754d5bc7eb9c446b7db017f1ebc; the zip is re-built by Europe PMC on each request, so only the member hash is stable). Inspected artifact
attributes.variants 243 Context-only references	Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML Retrieved: 2026-10-09T20:30:41Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.variants` Source artifact SHA-256: `2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.variants 243 Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: mmc2.xlsx (Data S1. Tables S1-S6) inside the Europe PMC supplementaryFiles zip for PMC12547740 Retrieved: 2026-10-09T20:31:37Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.variants` Source artifact SHA-256: `a3a69202b8f0d9ecb7fa22a16991d5e4d583b5ae72fd598206ea5c2b4c5c14ca` Hash scope: SHA-256 of mmc2.xlsx as extracted from the supplementaryFiles zip (zip SHA-256 1c89a7ebc0bf686c6087d0fee86ba6f364a6d754d5bc7eb9c446b7db017f1ebc; the zip is re-built by Europe PMC on each request, so only the member hash is stable). Inspected artifact
attributes.version Data S1 Table S2 (as published) Context-only references	Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML Retrieved: 2026-10-09T20:30:41Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.version` Source artifact SHA-256: `2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.version Data S1 Table S2 (as published) Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: mmc2.xlsx (Data S1. Tables S1-S6) inside the Europe PMC supplementaryFiles zip for PMC12547740 Retrieved: 2026-10-09T20:31:37Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.version` Source artifact SHA-256: `a3a69202b8f0d9ecb7fa22a16991d5e4d583b5ae72fd598206ea5c2b4c5c14ca` Hash scope: SHA-256 of mmc2.xlsx as extracted from the supplementaryFiles zip (zip SHA-256 1c89a7ebc0bf686c6087d0fee86ba6f364a6d754d5bc7eb9c446b7db017f1ebc; the zip is re-built by Europe PMC on each request, so only the member hash is stable). Inspected artifact

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Release 2026-10-09-ba02f2f4a36e · Record review: source checked

2 source records and release history

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools · Original source · HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML
Drost et al. 2025, Data S1 (Tables S1-S6) · Original source · mmc2.xlsx (Data S1. Tables S1-S6) inside the Europe PMC supplementaryFiles zip for PMC12547740

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Technical metadata and extraction receipts

Stable ID: rna-splicing-20261009-data-drost2025-merged-243

areas: dna-genomes
contexts: clinical_research
version: Data S1 Table S2 (as published)
variants: 243
population: 202 in-house variants tested 2015-2023 in patient or relative RNA (RT-PCR, Sanger) and/or exon trapping, plus 56 CAGI6 Splicing VUS challenge variants; 243 variants scored by all four tools, including all 56 CAGI6 variants.
split: No training split; evaluation of pretrained or rule-based predictors on the whole set
source locator: Results 'Additional splicing prediction tools...' paragraph 1; Results 'RNA splicing analysis reclassifies 54% of VUS' paragraphs 1-3
missing metadata: positives: reason: unreported; note: Positive/negative counts for the 243 are not printed; Table S4 ratios are consistent with 155 and 88 (derived, not stored).

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