rewirebio.iobenchmarks
Evaluation

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

Published comparison transcribed from the pinned source; not reproduced.

Evaluation results

1 evaluation · 6 results. Different protocols are not a single leaderboard.

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)

Sorted by Accuracy (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

Tested configurationAccuracyFalse positive rate (type I error: false positives as a share of the benign set)PrecisionProportion (type II error: false negatives as a share of the splicing set (false-negative rate))RecallSpecificity
Borzoi (128-bp) (Alavi 2026)Evaluation80.9%7 (6.5%)87.5%27 (35.5%)49 (64.5%)100 (93.5%)
All 6 result rows with coverage, uncertainty and sources
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Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
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)

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

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  • Metrics are recomputed from the saved predictions: not yet verified

Verified: Not verified

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Investigate discrepancies

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Missing or unresolved evidence

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  • 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

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  • 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
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Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

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  • 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

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

Evaluation procedure

Spliceogenic versus benign classification on an independent 65-gene set with OPA1-derived thresholds (Alavi Table IV)

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)
origin
Independent external evaluation
configuration
Primary source as retrieved 2026-10-11
dataset version
As assembled by Alavi 2026
split
No split
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
inputs
Single-nucleotide variant with genomic sequence context (GRCh38)
adaptation
zero-shot scores with thresholds grid-searched on the OPA1 evaluation sets
metric implementation
Equations 1 to 5 (type I error, type II error, accuracy, specificity, sensitivity); PPV
aggregation
Whole set
budget
Not reported
protocol id
rna-splicing-20261011-alavi2026-protocol-multigene

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

Reproduction

Split
No split
Adaptation
zero-shot scores with thresholds grid-searched on the OPA1 evaluation sets
Scoring implementation
Equations 1 to 5 (type I error, type II error, accuracy, specificity, sensitivity); PPV

No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.

Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.

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.

18 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
Comparison: adaptation
zero-shot scores with thresholds grid-searched on the OPA1 evaluation sets
Context-only references
Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.adaptation

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

Comparison: aggregation
Whole set
Context-only references
Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.aggregation

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

Comparison: budget
Not reported
Context-only references
Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

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

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

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.dataset_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

Comparison: inputs
Single-nucleotide variant with genomic sequence context (GRCh38)
Context-only references
Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.inputs

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

Comparison: metric implementation
Equations 1 to 5 (type I error, type II error, accuracy, specificity, sensitivity); PPV
Context-only references
Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.metric_implementation

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

Comparison: 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 ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.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

Comparison: protocol id
rna-splicing-20261011-alavi2026-protocol-multigene
Context-only references
Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.protocol_id

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

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

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.comparison.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

Origin
independent_paper
Context-only references
Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026)

Original source ↗

Table IV row 'BORZOI (128-BP)'

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

independent paper

Audit details

Field: attributes.origin

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-eval-multigene-borzoi-128-bp

areas
dna-genomes
contexts
clinical_research
origin
independent_paper
protocol
rna-splicing-20261011-alavi2026-protocol-multigene
version
Primary source as retrieved 2026-10-11
comparison
dataset version: As assembled by Alavi 2026; split: No split; 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; inputs: Single-nucleotide variant with genomic sequence context (GRCh38); adaptation: zero-shot scores with thresholds grid-searched on the OPA1 evaluation sets; metric implementation: Equations 1 to 5 (type I error, type II error, accuracy, specificity, sensitivity); PPV; aggregation: Whole set; budget: Not reported; protocol id: rna-splicing-20261011-alavi2026-protocol-multigene
source locator
Table IV row 'BORZOI (128-BP)'
missing metadata
comparison.budget: reason: unreported
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