Protocol

Splice-effect prediction against patient-RNA or exon-trapping results, in-house diagnostic cohort (Drost et al. Data S1)

Variant-level classification of experimentally tested splicing effect by DNA-based splice predictors.

Overview

Variant-level classification of experimentally tested splicing effect by DNA-based splice predictors.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

8 recorded evaluations, 56 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

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Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

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

Filter evaluations

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

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Author-reported evaluations: 4
External evaluations: 4

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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-protocol-drost2025-inhouse

areas: dna-genomes
contexts: clinical_research
protocol: Score each variant with SpliceAI, Pangolin, SPiP and SQUIRLS; truth is the experimental result in patient RNA (RT-PCR and Sanger) or exon trapping (effect on splicing versus no effect). AUROC (plotROC) and AUPRC (yardstick) from continuous scores; sensitivity, specificity, precision, F1, PPV and NPV (caret) after binarising at literature thresholds (SQUIRLS 0.018, SPiP 0.452, Pangolin 0.106, SpliceAI 0.12), and for at-least-N consensus rules.
version: Data S1 Tables S3 and S4
source locator: Data S1 Table S3 'Stratified datasets', Dataset 'In House' (F12:I15); Table S4 'In House dataset' (B32:H41)
limitations: Ascertainment: 87% of in-house variants were sent for RNA testing because Alamut predicted a splicing change, so negatives are mostly predicted-but-unconfirmed variants.; Restricted to variants scorable by all four tools; per-tool missing scores are not counted as negatives.; Variant-level splicing effect, not pathogenicity; tissue was chosen per gene (blood, fibroblasts or exon trapping), not modelled by the predictors.; Literature thresholds, not tuned on this set; AUROC/AUPRC have no printed uncertainty.
missing metadata: metric implementation: reason: unextracted; note: R code not published with the article; packages plotROC 2.3.1, yardstick 1.2.0 and caret 6.0.94 are named

Related records

uses data: Drost et al. in-house RNA-tested diagnostic variants, scorable subset
assessment: At least 1 of 4 splice predictors on in-house scorable variants (count not printed)
assessment: At least 2 of 4 splice predictors on in-house scorable variants (count not printed)
assessment: At least 3 of 4 splice predictors on in-house scorable variants (count not printed)
assessment: At least 4 of 4 splice predictors on in-house scorable variants (count not printed)
assessment: Pangolin on in-house scorable variants (count not printed)
assessment: SPiP 2.1 on in-house scorable variants (count not printed)
assessment: SpliceAI on in-house scorable variants (count not printed)
assessment: SQUIRLS 2.0.1 on in-house scorable variants (count not printed)
assessed by: Select a patient-RNA splicing-variant validation workflow

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