rewirebio.iobenchmarks
Dataset

Myotonic dystrophy type 1 tibialis anterior RNA-seq, GEO GSE86356 (as used by Jaganathan et al. 2026)

Published RNA-seq of 55 tibialis anterior biopsies from 44 individuals with myotonic dystrophy type 1 and 11 unaffected individuals, grouped by inferred MBNL activity.

Evaluation results

1 evaluation · 1 result. Different protocols are not a single leaderboard.

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Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: SpliceAI2 fine-tuned on myotonic dystrophy type 1 muscle RNA-seq (Jaganathan et al. 2026)Protocol: MBNL1-associated junction usage differences across myotonic dystrophy severity groups, held-out genes (SpliceAI2 paper, Pearson)
Dataset: Myotonic dystrophy type 1 tibialis anterior RNA-seq, GEO GSE86356 (as used by Jaganathan et al. 2026)
0.26 Pearson (mean over disease-severity condition pairs; held-out genes)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

SpliceAI2 myotonic dystrophy fine-tune on MBNL1-associated junction usage differences

rna-splicing-20261013-spliceai2-protocol-dm1-mbnl1

Aggregation: Not reported

A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Main 'Modeling tissue-specific splicing' paragraph 4 '(mean Pearson r = 0.26)'

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

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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

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.

7 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
Accession
GSE86356
Context-only references
A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026)

Original source ↗

Methods 'MBNL1-depleted myotonic dystrophy'

Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Retrieved: 2026-10-13T12:40:34Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.accession

Source artifact SHA-256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy.

Inspected artifact

Population
55 biopsies; healthy n = 11 and low, medium and high severity n = 15, 14 and 15
Context-only references
A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026)

Original source ↗

Methods 'MBNL1-depleted myotonic dystrophy'

Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Retrieved: 2026-10-13T12:40:34Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.population

Source artifact SHA-256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy.

Inspected artifact

Source location
Methods 'MBNL1-depleted myotonic dystrophy'
Context-only references
A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026)

Original source ↗

Methods 'MBNL1-depleted myotonic dystrophy'

Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Retrieved: 2026-10-13T12:40:34Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy.

Inspected artifact

Split
Held-out genes
Context-only references
A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026)

Original source ↗

Methods 'MBNL1-depleted myotonic dystrophy'

Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Retrieved: 2026-10-13T12:40:34Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy.

Inspected artifact

Version
GEO GSE86356, processed with the GTEx RNA-seq pipeline V10 (GRCh38, GENCODE v39)
Context-only references
A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026)

Original source ↗

Methods 'MBNL1-depleted myotonic dystrophy'

Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Retrieved: 2026-10-13T12:40:34Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.version

Source artifact SHA-256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy.

Inspected artifact

Description
Published RNA-seq of 55 tibialis anterior biopsies from 44 individuals with myotonic dystrophy type 1 and 11 unaffected individuals, grouped by inferred MBNL activity.
Context-only references
A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026)

Original source ↗

Methods 'MBNL1-depleted myotonic dystrophy'

Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Retrieved: 2026-10-13T12:40:34Z

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy.

Inspected artifact

Name
Myotonic dystrophy type 1 tibialis anterior RNA-seq, GEO GSE86356 (as used by Jaganathan et al. 2026)
Context-only references
A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026)

Original source ↗

Methods 'MBNL1-depleted myotonic dystrophy'

Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Retrieved: 2026-10-13T12:40:34Z

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b

Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy.

Inspected artifact

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-20261013-spliceai2-data-dm1-gse86356

areas
rna-transcriptomes
contexts
research
version
GEO GSE86356, processed with the GTEx RNA-seq pipeline V10 (GRCh38, GENCODE v39)
population
55 biopsies; healthy n = 11 and low, medium and high severity n = 15, 14 and 15
accession
GSE86356
split
Held-out genes
source locator
Methods 'MBNL1-depleted myotonic dystrophy'
missing metadata
reuse restrictions: reason: unreported; note: Not stated in the paper.
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