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Pangolin (Drost et al.)

Pangolin as used by Drost et al.

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Pangolin as used by Drost et al.

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

Evaluations and results

3 evaluations · 24 results. Different protocols are not a single leaderboard.

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.958 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S3 'Stratified datasets', Dataset 'CAGI6', cell I7; row Pangolin, column AUPRC
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.913 auroc 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S3 'Stratified datasets', Dataset 'CAGI6', cell H7; row Pangolin, column AUROC
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.889 f1-score 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell F20; row Pangolin, column F1
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.762 negative-predictive-value 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell H20; row Pangolin, column Neg Pred Value
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.914 precision 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell G20; row Pangolin, column Pos Pred Value
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.914 precision 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell E20; row Pangolin, column Precision
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.865 recall 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell C20; row Pangolin, column Sensitivity (Recall)
Configuration: Pangolin (Drost et al.)	Protocol: Splice-effect prediction against patient-RNA or exon-trapping results, CAGI6 Splicing VUS subset (Drost et al. Data S1) Dataset: CAGI6 Splicing VUS variants as scored by Drost et al.	0.842 specificity 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 56 CAGI6 Splicing VUS variants rna-splicing-20261009-protocol-drost2025-cagi6 Aggregation: Not reported Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools; Drost et al. 2025, Data S1 (Tables S1-S6) · Data S1 Table S4 'CAGI6 dataset', cell D20; row Pangolin, 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
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	0.878 auroc 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 H12; row Pangolin, column AUROC
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	0.856 f1-score 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 S4 'In House dataset', cell F33; row Pangolin, column F1
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	0.754 negative-predictive-value 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 S4 'In House dataset', cell H33; row Pangolin, column Neg Pred Value
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	0.856 precision 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 S4 'In House dataset', cell G33; row Pangolin, column Pos Pred Value
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	0.856 precision 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 S4 'In House dataset', cell E33; row Pangolin, column Precision
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	0.856 recall 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 S4 'In House dataset', cell C33; row Pangolin, column Sensitivity (Recall)
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	0.754 specificity 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 S4 'In House dataset', cell D33; row Pangolin, 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
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	0.885 auroc 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 C10; row Pangolin, column AUROC
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	0.864 f1-score 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 S4 'Entire Dataset', cell F7; row Pangolin, column F1
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	0.756 negative-predictive-value 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 S4 'Entire Dataset', cell H7; row Pangolin, column Neg Pred Value
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	0.869 precision 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 S4 'Entire Dataset', cell G7; row Pangolin, column Pos Pred Value
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	0.869 precision 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 S4 'Entire Dataset', cell E7; row Pangolin, column Precision
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	0.858 recall 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 S4 'Entire Dataset', cell C7; row Pangolin, column Sensitivity (Recall)
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	0.773 specificity 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 S4 'Entire Dataset', cell D7; row Pangolin, column Specificity

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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-config-drost2025-pangolin

areas: dna-genomes
contexts: clinical_research
method types: supervised_machine_learning
reported name: Pangolin (Drost et al.)
foundation model eligible: false
version: version 4.3.1 (as printed)
parameters: Binary predictions at the literature threshold 0.106
source locator: Methods 'In silico splice predictions'; Results paragraph 3
limitations: The printed Pangolin version 4.3.1 does not match the tkzeng/Pangolin release numbering known to the extractor; recorded as printed, not resolved.
model identity note: Methods 'In silico splice predictions' print 'Pangolin version 4.3.1'. Version numbers in the 4.x series match releases of the unrelated SARS-CoV-2 lineage tool also named pangolin, so the printed version may not identify the splicing model's release; it is recorded as printed and should not be relied on.

Related records

configuration of: Pangolin
system: Pangolin on 56 CAGI6 Splicing VUS variants
system: Pangolin on in-house scorable variants (count not printed)
system: Pangolin on 243 scorable variants (in-house plus CAGI6)

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