rewirebio.iobenchmarks
Evaluation

SpliceAI on the Extended ClinVar benchmark (58,064 variants)

Published comparison transcribed from the pinned source; not reproduced.

Evaluation results

1 evaluation · 4 results. Different protocols are not a single leaderboard.

Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6) · Dataset: Extended ClinVar benchmark (58,064 variants)

Sorted by Balanced accuracy (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)) (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 configurationBalanced accuracy (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))F1 (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))Recall (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))Specificity (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))
SpliceAI (Fortier et al. 2026)Evaluation0.8890.8650.7910.987
All 4 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: SpliceAI (Fortier et al. 2026)Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants)
0.889 Balanced accuracy (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SpliceAI on the Extended ClinVar benchmark (58,064 variants)

rna-splicing-20261011-fortier2026-protocol-extended-clinvar

Aggregation: Not reported

Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'Balanced Accuracy'
Configuration: SpliceAI (Fortier et al. 2026)Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants)
0.865 F1 (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SpliceAI on the Extended ClinVar benchmark (58,064 variants)

rna-splicing-20261011-fortier2026-protocol-extended-clinvar

Aggregation: Not reported

Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'F1'
Configuration: SpliceAI (Fortier et al. 2026)Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants)
0.791 Recall (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SpliceAI on the Extended ClinVar benchmark (58,064 variants)

rna-splicing-20261011-fortier2026-protocol-extended-clinvar

Aggregation: Not reported

Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'Sensitivity'
Configuration: SpliceAI (Fortier et al. 2026)Protocol: Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset: Extended ClinVar benchmark (58,064 variants)
0.987 Specificity (maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset))
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SpliceAI on the Extended ClinVar benchmark (58,064 variants)

rna-splicing-20261011-fortier2026-protocol-extended-clinvar

Aggregation: Not reported

Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026) · Table 6, row 'SpliceAI', column 'Specificity'

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.

Evaluation procedure

Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)

Configuration
SpliceAI (Fortier et al. 2026)
Protocol
Splice-altering variant classification, Extended ClinVar benchmark (58,064 variants) (Fortier et al. Table 6)
Dataset
Extended ClinVar benchmark (58,064 variants)
origin
Independent external evaluation
configuration
Primary source as retrieved 2026-10-11
dataset version
As assembled by Fortier et al. 2026
split
Whole set
population
GRCh38 ClinVar Assessments variants (release 2025-10) pre-filtered in VarSeq to those where at least one legacy algorithm predicts a splice effect; positives are pathogenic with 'splice' in the interpretation text, negatives benign; 17.4% alter canonical dinucleotides
inputs
Variant with genomic sequence context (VCF)
adaptation
maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)
metric implementation
Sensitivity, specificity, F1 = 2TP/(2TP+FP+FN), balanced accuracy = mean of sensitivity and specificity (Equations 1 to 4)
aggregation
Whole dataset
budget
Not reported
protocol id
rna-splicing-20261011-fortier2026-protocol-extended-clinvar

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

Reproduction

Split
Whole set
Adaptation
maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)
Scoring implementation
Sensitivity, specificity, F1 = 2TP/(2TP+FP+FN), balanced accuracy = mean of sensitivity and specificity (Equations 1 to 4)

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
maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset)
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: aggregation
Whole dataset
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: budget
Not reported
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: dataset version
As assembled by Fortier et al. 2026
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: inputs
Variant with genomic sequence context (VCF)
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: metric implementation
Sensitivity, specificity, F1 = 2TP/(2TP+FP+FN), balanced accuracy = mean of sensitivity and specificity (Equations 1 to 4)
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.metric_implementation

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: population
GRCh38 ClinVar Assessments variants (release 2025-10) pre-filtered in VarSeq to those where at least one legacy algorithm predicts a splice effect; positives are pathogenic with 'splice' in the interpretation text, negatives benign; 17.4% alter canonical dinucleotides
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.population

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: protocol id
rna-splicing-20261011-fortier2026-protocol-extended-clinvar
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.protocol_id

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: split
Whole set
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.split

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Origin
independent_paper
Context-only references
Analyzing the performance of deep learning splice prediction algorithms (Fortier, Rudy and Scherer, PLOS One 2026)

Original source ↗

Table 6 row 'SpliceAI'

Version: PLOS One 21(5):e0348885, published 2026-05-13; PMC13170886 full-text XML
Retrieved: 2026-10-11T21:37:04Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.origin

Source artifact SHA-256: dffe74cee7782cbdfdbc9423cf00f0a846b3d720b90b10e9732d6f768c485176

Hash scope: Hash scope not separately documented; inspect source record

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-fortier2026-eval-extended-clinvar-spliceai

areas
dna-genomes
contexts
clinical_research
origin
independent_paper
protocol
rna-splicing-20261011-fortier2026-protocol-extended-clinvar
version
Primary source as retrieved 2026-10-11
comparison
dataset version: As assembled by Fortier et al. 2026; split: Whole set; population: GRCh38 ClinVar Assessments variants (release 2025-10) pre-filtered in VarSeq to those where at least one legacy algorithm predicts a splice effect; positives are pathogenic with 'splice' in the interpretation text, negatives benign; 17.4% alter canonical dinucleotides; inputs: Variant with genomic sequence context (VCF); adaptation: maximum delta score classification after legacy-tool pre-filtering (threshold not restated for this dataset); metric implementation: Sensitivity, specificity, F1 = 2TP/(2TP+FP+FN), balanced accuracy = mean of sensitivity and specificity (Equations 1 to 4); aggregation: Whole dataset; budget: Not reported; protocol id: rna-splicing-20261011-fortier2026-protocol-extended-clinvar
source locator
Table 6 row 'SpliceAI'
missing metadata
comparison.budget: reason: unreported
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