| Configuration: Training class prior / majority (MFASS v2 canonical held-out split) | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.5 AUROC unitless · higher Uncertainty: Not reported by the source: Not estimated; one selected evaluation. Coverage: 8324/8324 scored | Rewire evaluation · Source checkedMethods, coverage and sourceTraining class prior / majority on MFASS v2 canonical held-out split MFASS v2 canonical held-out split Aggregation: Not reported Training class prior / majority: report; Training class prior / majority: audit · metrics.auroc |
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| Configuration: Training class prior / majority (MFASS v2 canonical held-out split) | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.0378 Average precision unitless · higher Uncertainty: Not reported by the source: Not estimated; one selected evaluation. Coverage: 8324/8324 scored | Rewire evaluation · Source checkedMethods, coverage and sourceTraining class prior / majority on MFASS v2 canonical held-out split MFASS v2 canonical held-out split Aggregation: Not reported Training class prior / majority: report; Training class prior / majority: audit · metrics.average_precision_sklearn |
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| Configuration: Training class prior / majority (MFASS v2 canonical held-out split) | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.04 Precision at 100 unitless · higher Uncertainty: Not reported by the source: Not estimated; one selected evaluation. Coverage: 8324/8324 scored | Rewire evaluation · Source checkedMethods, coverage and sourceTraining class prior / majority on MFASS v2 canonical held-out split MFASS v2 canonical held-out split Aggregation: Not reported Training class prior / majority: report; Training class prior / majority: audit · metrics.precision_at_capacity |
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| Configuration: Corrected k-mer / position baseline | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.778 AUROC unitless · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8324/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceCorrected k-mer / position baseline on MFASS v2 Assay-oriented 21 bp k-mer window, exon position, allele identity and conservation features; gradient-boosted trees trained on the MFASS training split. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/baseline-kmer-position-v2.json :: auroc |
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| Configuration: Corrected k-mer / position baseline | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.286 Average precision fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8324/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceCorrected k-mer / position baseline on MFASS v2 Assay-oriented 21 bp k-mer window, exon position, allele identity and conservation features; gradient-boosted trees trained on the MFASS training split. Aggregation: Not reported MFASS v2 corrected k-mer baseline: pinned upstream result JSON · JSON pointer /metrics/average_precision_sklearn |
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| Configuration: Corrected k-mer / position baseline | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.61 Precision at 100 fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8324/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceCorrected k-mer / position baseline on MFASS v2 Assay-oriented 21 bp k-mer window, exon position, allele identity and conservation features; gradient-boosted trees trained on the MFASS training split. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/baseline-kmer-position-v2.json :: precision_at_100 |
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| Pipeline: DNABERT-2 117M · frozen pair embeddings | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.55 AUROC unitless · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8324/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceDNABERT-2 117M · frozen pair embeddings on MFASS v2 Masked mean of frozen last hidden states for 170 bp reference and mutant sequences; concatenate reference and mutant-minus-reference embeddings; fixed balanced L2 logistic head trained only on the MFASS training split. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/dnabert2-117m-frozen-pair-logreg.json :: auroc |
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| Pipeline: DNABERT-2 117M · frozen pair embeddings | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.0451 Average precision fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8324/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceDNABERT-2 117M · frozen pair embeddings on MFASS v2 Masked mean of frozen last hidden states for 170 bp reference and mutant sequences; concatenate reference and mutant-minus-reference embeddings; fixed balanced L2 logistic head trained only on the MFASS training split. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/dnabert2-117m-frozen-pair-logreg.json :: average_precision |
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| Pipeline: DNABERT-2 117M · frozen pair embeddings | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.03 Precision at 100 fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8324/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceDNABERT-2 117M · frozen pair embeddings on MFASS v2 Masked mean of frozen last hidden states for 170 bp reference and mutant sequences; concatenate reference and mutant-minus-reference embeddings; fixed balanced L2 logistic head trained only on the MFASS training split. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/dnabert2-117m-frozen-pair-logreg.json :: precision_at_100 |
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| Configuration: Pangolin · mask=False | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.876 AUROC unitless · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8301/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourcePangolin · mask=False on MFASS v2 Unchanged specialist run in genomic context with GENCODE v44; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/pangolin-maskFalse.json :: auroc |
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| Configuration: Pangolin · mask=False | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.389 Average precision fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8301/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourcePangolin · mask=False on MFASS v2 Unchanged specialist run in genomic context with GENCODE v44; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/pangolin-maskFalse.json :: average_precision |
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| Configuration: Pangolin · mask=False | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.65 Precision at 100 fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8301/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourcePangolin · mask=False on MFASS v2 Unchanged specialist run in genomic context with GENCODE v44; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/pangolin-maskFalse.json :: precision_at_100 |
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| Configuration: SpliceAI 1.3.1 | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.806 AUROC unitless · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8194/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceSpliceAI 1.3.1 on MFASS v2 Unchanged specialist run in genomic context with bundled annotation; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: auroc |
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| Configuration: SpliceAI 1.3.1 | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.299 Average precision fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8194/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceSpliceAI 1.3.1 on MFASS v2 Unchanged specialist run in genomic context with bundled annotation; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: average_precision |
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| Configuration: SpliceAI 1.3.1 | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.64 Precision at 100 fraction · higher Uncertainty: Not reported by the source: Point estimate; see paired-comparison artifacts. Coverage: 8194/8324 scored | Rewire evaluation · Independently reproducedMethods, coverage and sourceSpliceAI 1.3.1 on MFASS v2 Unchanged specialist run in genomic context with bundled annotation; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: precision_at_100 |
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| Configuration: MMSplice (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 0.256 Average precision unitless · higher Uncertainty: 95% CI 0.226 to 0.285 Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceMMSplice on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'MMSplice', columns 'AP' and 'AP 95% CI' |
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| Configuration: MMSplice (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 0.758 AUROC unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceMMSplice on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'MMSplice', column 'AUROC' |
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| Configuration: MMSplice (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 27,733 Count (variants scored) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceMMSplice on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'MMSplice', column 'n' |
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| Configuration: Pangolin (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 0.421 Average precision unitless · higher Uncertainty: 95% CI 0.386 to 0.454 Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcePangolin on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'Pangolin', columns 'AP' and 'AP 95% CI' |
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| Configuration: Pangolin (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 0.888 AUROC unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcePangolin on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'Pangolin', column 'AUROC' |
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| Configuration: Pangolin (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 27,733 Count (variants scored) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcePangolin on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'Pangolin', column 'n' |
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| Configuration: SPANR (legacy) (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 0.228 Average precision unitless · higher Uncertainty: 95% CI 0.202 to 0.260 Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSPANR (legacy) on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'SPANR (legacy)', columns 'AP' and 'AP 95% CI' |
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| Configuration: SPANR (legacy) (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 0.748 AUROC unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSPANR (legacy) on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'SPANR (legacy)', column 'AUROC' |
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| Configuration: SPANR (legacy) (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 27,663 Count (variants scored) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSPANR (legacy) on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'SPANR (legacy)', column 'n' |
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| Configuration: SpliceAI (Znabu et al. 2026) | Protocol: MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) Dataset: MFASS v2 eligible assay cohort | 0.321 Average precision unitless · higher Uncertainty: 95% CI 0.293 to 0.353 Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSpliceAI on all labelled MFASS SNVs splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Aggregation: Not reported A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Section 4 'Results' table (page 3), row 'SpliceAI', columns 'AP' and 'AP 95% CI' |
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