Dataset

Drost et al. in-house RNA-tested diagnostic variants, scorable subset

In-house diagnostic variants of the Drost et al. cohort that were 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

Applied filters: All linked evaluations

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, 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 checked Methods, coverage and source At 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
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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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
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 checked Methods, coverage and source At 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
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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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 checked Methods, coverage and source At 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
Configuration: At least 3 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	0.856 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 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 F40; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.737 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 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 H40; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.883 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 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 G40; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.883 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 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 E40; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.831 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 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 C40; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.812 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 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 D40; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.76 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 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 F41; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.6 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 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 H41; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	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 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 G41; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	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 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 E41; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.644 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 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 C41; 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, in-house diagnostic cohort (Drost et al. Data S1) Dataset: Drost et al. in-house RNA-tested diagnostic variants, scorable subset	0.913 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 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 D41; row AtLeast4, column Specificity
Configuration: Pangolin (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	0.939 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 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 S3 'Stratified datasets', Dataset 'In House', cell I12; 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.

12 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 Variants submitted for diagnostic splicing analysis at Erasmus MC 2015-2023, tested in patient RNA from blood, fibroblasts or other tissue (RT-PCR) and/or exon trapping; 87% (176/202) were selected because Alamut Visual Plus predicted a splicing change. 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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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 Variants submitted for diagnostic splicing analysis at Erasmus MC 2015-2023, tested in patient RNA from blood, fibroblasts or other tissue (RT-PCR) and/or exon trapping; 87% (176/202) were selected because Alamut Visual Plus predicted a splicing change. Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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 Cohort stratum of the 243-variant comparison 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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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 Cohort stratum of the 243-variant comparison Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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.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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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
description In-house diagnostic variants of the Drost et al. cohort that were scored by all four tools. 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 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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: `description` Source artifact SHA-256: `2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
description In-house diagnostic variants of the Drost et al. cohort that were scored by all four tools. Context-only references	Drost et al. 2025, Data S1 (Tables S1-S6) Original source ↗ Results 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset' 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: `description` 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-inhouse-subset

areas: dna-genomes
contexts: clinical_research
version: Data S1 Table S2 (as published)
population: Variants submitted for diagnostic splicing analysis at Erasmus MC 2015-2023, tested in patient RNA from blood, fibroblasts or other tissue (RT-PCR) and/or exon trapping; 87% (176/202) were selected because Alamut Visual Plus predicted a splicing change.
split: Cohort stratum of the 243-variant comparison
source locator: Results 'RNA splicing analysis reclassifies 54% of VUS' paragraph 1; Data S1 Table S3 'In House' rows and Table S4 'In House dataset'
missing metadata: variants: reason: unreported; note: Scorable in-house count not printed; 243 minus 56 CAGI6 gives 187 (derived, not stored).

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