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Dataset

Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes) as assembled by Alavi 2026.

Evaluation results

12 evaluations · 72 results. Different protocols are not a single leaderboard.

Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: AlphaGenome (Either Module) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		71.6% Accuracy
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME (EITHER MODULE)', column 'Accuracy' (PDF page 9 of 11)
Configuration: AlphaGenome (Either Module) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		67.2% Precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME (EITHER MODULE)', column 'PPV' (PDF page 9 of 11)
Configuration: AlphaGenome (Either Module) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		43 (56.6%) Recall
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME (EITHER MODULE)', column 'Sensitivity' (PDF page 9 of 11)
Configuration: AlphaGenome (Either Module) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		86 (80.4%) Specificity
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME (EITHER MODULE)', column 'Specificity' (PDF page 9 of 11)
Configuration: AlphaGenome (Either Module) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		21 (19.6%) False positive rate (type I error: false positives as a share of the benign set)
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME (EITHER MODULE)', column 'Type I error' (PDF page 9 of 11)
Configuration: AlphaGenome (Either Module) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		33 (43.4%) Proportion (type II error: false negatives as a share of the splicing set (false-negative rate))
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME (EITHER MODULE)', column 'Type II error' (PDF page 9 of 11)
Configuration: AlphaGenome Junction Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		68.9% Accuracy
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Junction Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME JUNCTION SCORER', column 'Accuracy' (PDF page 9 of 11)
Configuration: AlphaGenome Junction Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		68.6% Precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Junction Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME JUNCTION SCORER', column 'PPV' (PDF page 9 of 11)
Configuration: AlphaGenome Junction Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		35 (46.1%) Recall
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Junction Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME JUNCTION SCORER', column 'Sensitivity' (PDF page 9 of 11)
Configuration: AlphaGenome Junction Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		91 (85.0%) Specificity
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Junction Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME JUNCTION SCORER', column 'Specificity' (PDF page 9 of 11)
Configuration: AlphaGenome Junction Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		16 (15.0%) False positive rate (type I error: false positives as a share of the benign set)
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Junction Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME JUNCTION SCORER', column 'Type I error' (PDF page 9 of 11)
Configuration: AlphaGenome Junction Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		41 (53.9%) Proportion (type II error: false negatives as a share of the splicing set (false-negative rate))
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Junction Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME JUNCTION SCORER', column 'Type II error' (PDF page 9 of 11)
Configuration: AlphaGenome Splice Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		67.2% Accuracy
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Splice Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME SPLICE SCORER', column 'Accuracy' (PDF page 9 of 11)
Configuration: AlphaGenome Splice Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		67.4% Precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Splice Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME SPLICE SCORER', column 'PPV' (PDF page 9 of 11)
Configuration: AlphaGenome Splice Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		31 (40.8%) Recall
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Splice Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME SPLICE SCORER', column 'Sensitivity' (PDF page 9 of 11)
Configuration: AlphaGenome Splice Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		92 (86.0%) Specificity
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Splice Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME SPLICE SCORER', column 'Specificity' (PDF page 9 of 11)
Configuration: AlphaGenome Splice Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		15 (13.9%) False positive rate (type I error: false positives as a share of the benign set)
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Splice Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME SPLICE SCORER', column 'Type I error' (PDF page 9 of 11)
Configuration: AlphaGenome Splice Scorer (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		45 (59.2%) Proportion (type II error: false negatives as a share of the splicing set (false-negative rate))
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome Splice Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'ALPHAGENOME SPLICE SCORER', column 'Type II error' (PDF page 9 of 11)
Configuration: Borzoi (128-bp) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		80.9% Accuracy
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Borzoi (128-bp) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'BORZOI (128-BP)', column 'Accuracy' (PDF page 9 of 11)
Configuration: Borzoi (128-bp) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		87.5% Precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Borzoi (128-bp) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'BORZOI (128-BP)', column 'PPV' (PDF page 9 of 11)
Configuration: Borzoi (128-bp) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		49 (64.5%) Recall
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Borzoi (128-bp) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'BORZOI (128-BP)', column 'Sensitivity' (PDF page 9 of 11)
Configuration: Borzoi (128-bp) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		100 (93.5%) Specificity
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Borzoi (128-bp) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'BORZOI (128-BP)', column 'Specificity' (PDF page 9 of 11)
Configuration: Borzoi (128-bp) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		7 (6.5%) False positive rate (type I error: false positives as a share of the benign set)
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Borzoi (128-bp) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'BORZOI (128-BP)', column 'Type I error' (PDF page 9 of 11)
Configuration: Borzoi (128-bp) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		27 (35.5%) Proportion (type II error: false negatives as a share of the splicing set (false-negative rate))
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Borzoi (128-bp) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'BORZOI (128-BP)', column 'Type II error' (PDF page 9 of 11)
Configuration: Borzoi (32-bp) (Alavi 2026)Protocol: Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)
Dataset: Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)		86.9% Accuracy
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Borzoi (32-bp) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)

rna-splicing-20261011-alavi2026-protocol-multigene

Aggregation: Not reported

Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Table IV, row 'BORZOI (32-BP)', column 'Accuracy' (PDF page 9 of 11)

Source checking is not independent reproduction. Release 2026-10-22-1b7cf027e4f6.

Research readiness

0 of 4 readiness checks met. These checks assess whether the evidence supports a reproducible investigation; a source-checked score alone does not meet them.

Readiness checks, gaps and artifacts

Release 2026-10-22-1b7cf027e4f6 · Evidence verified: Not verified

Evidence incomplete

Replay metrics

Exact outcomes, predictions, identifiers and evaluator are connected.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified

Verified: Not verified

Evidence incomplete

Investigate discrepancies

Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified
  • Sample annotations are recorded: not yet verified
  • Dependence between samples is assessed: not yet verified

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • A pinned run recipe exists: not yet verified
  • Compute requirements are estimated: not yet verified

Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Independent validation data exist: not yet verified
  • Overlap with training data is checked: not yet verified

Verified: Not verified

Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.

Artifacts and reproduction

No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.

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.

6 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statementOriginal source and locationReview and provenance
Population
76 functionally validated spliceogenic substitutions at canonical splice sites of 65 genes from Bournazos et al. 2022 (RNA diagnostics in clinically accessible specimens) and Dawes et al. 2023 (SpliceVault), with 107 high-confidence ClinVar benign intronic substitutions from 46 of the 65 genes
Context-only references		Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14

Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages)
Retrieved: 2026-10-11T21:42:49Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.population

Source artifact SHA-256: e11f4bd8818992a831cb2829d934287c2587b108881c9785c2ef5c8cdc730004

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results.

Inspected artifact

Source location
Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14
Context-only references		Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14

Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages)
Retrieved: 2026-10-11T21:42:49Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: e11f4bd8818992a831cb2829d934287c2587b108881c9785c2ef5c8cdc730004

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results.

Inspected artifact

Split
No split
Context-only references		Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14

Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages)
Retrieved: 2026-10-11T21:42:49Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: e11f4bd8818992a831cb2829d934287c2587b108881c9785c2ef5c8cdc730004

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results.

Inspected artifact

Version
As assembled by Alavi 2026
Context-only references		Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14

Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages)
Retrieved: 2026-10-11T21:42:49Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.version

Source artifact SHA-256: e11f4bd8818992a831cb2829d934287c2587b108881c9785c2ef5c8cdc730004

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results.

Inspected artifact

Description
Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes) as assembled by Alavi 2026.
Context-only references		Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14

Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages)
Retrieved: 2026-10-11T21:42:49Z

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: e11f4bd8818992a831cb2829d934287c2587b108881c9785c2ef5c8cdc730004

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results.

Inspected artifact

Name
Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)
Context-only references		Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14

Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages)
Retrieved: 2026-10-11T21:42:49Z

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: e11f4bd8818992a831cb2829d934287c2587b108881c9785c2ef5c8cdc730004

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results.

Inspected artifact

How to read the evidence

Sources and history

Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

1 source record and release historyDownload this release (gzip)
Technical metadata and extraction receipts

Stable ID: rna-splicing-20261011-alavi2026-data-multigene

areas
dna-genomes
contexts
clinical_research
version
As assembled by Alavi 2026
population
76 functionally validated spliceogenic substitutions at canonical splice sites of 65 genes from Bournazos et al. 2022 (RNA diagnostics in clinically accessible specimens) and Dawes et al. 2023 (SpliceVault), with 107 high-confidence ClinVar benign intronic substitutions from 46 of the 65 genes
split
No split
source locator
Methods A; Results F 'Multi-gene benchmarking'; references 13 and 14
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