rewirebio.iobenchmarks
Dataset

DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)

Minigene reporter screen of mutagenised variants in the 265 nt upstream of DNM1 exon 10a, assayed in five cell line and promoter combinations, with variants called active when they shift 3' splice site use.

Evaluation results

8 evaluations · 8 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 merged splicing score, distilled model, Atlas precomputed (AlphaGenome Atlas v1)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.943 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

AG Splicing on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'AG Splicing (AP=0.943)' (page 60)
Configuration: AVI six-model ensemble (AlphaGenome Atlas v1)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.708 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

AVI PHRED on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'AVI PHRED (AP=0.708)' (page 60)
Configuration: AVI splicing-feature SHAP attribution (AlphaGenome Atlas v1)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.943 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

AVI Splicing SHAP attribution on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'AVI Splicing SHAP attribution (AP=0.943)' (page 60)
Configuration: CADD v1.7 GRCh38, precomputed plus pipeline for missing indels (AlphaGenome Atlas v1)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.289 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

CADD PHRED on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'CADD PHRED (AP=0.289)' (page 60)
Configuration: GPN-Star (M), mammalian, mutation-rate calibrated (AlphaGenome Atlas v1)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.26 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

GPN-Star (M) on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'GPN-Star (M) (AP=0.260)' (page 60)
Configuration: GPN-Star (V), vertebrate, mutation-rate calibrated (AlphaGenome Atlas v1)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.348 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

GPN-Star (V) on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'GPN-Star (V) (AP=0.348)' (page 60)
Configuration: Pangolin (AlphaGenome Atlas v1 DNM1 screen comparison)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.939 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Pangolin on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'Pangolin (AP=0.939)' (page 60)
Configuration: SpliceAI (AlphaGenome Atlas v1 DNM1 screen comparison)Protocol: DNM1 minigene screen, active versus inactive variants, average precision (AlphaGenome Atlas)
Dataset: DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
0.94 Average precision (DNM1 minigene screen, active vs inactive variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

SpliceAI on the DNM1 minigene splicing screen (AlphaGenome Atlas fig. S9E)

ag-atlas-20261019-protocol-dnm1-active-variant-ap

Aggregation: Not reported

AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · fig. S9E legend entry 'SpliceAI (AP=0.940)' (page 60)

Source checking is not independent reproduction. Release 2026-11-02-a7f03c9e55a5.

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 2026-11-02-a7f03c9e55a5 · 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.

5 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statementOriginal source and locationReview and provenance
Assay
Barcoded minigene splicing reporter, amplicon RNA-seq, three biological replicates; HEK293, KELLY, T47D, A172, DAOY or GAMG cells (five passing cell line and promoter combinations)
Context-only references
AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026)

Original source ↗

Methods 'Experimental splicing screen of DNM1 intron' (pages 43 to 44); Results paragraph on DNM1 (page 8)

Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages)
Retrieved: 2026-10-19T12:19:03Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.assay

Source artifact SHA-256: b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453

Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256.

Inspected artifact

Label semantics
Active: mean alternative 3' splice site rate above 0.10 across passing conditions and dominant alternative site coherence at least 0.5. 12 intronic variants produced in-frame exon extensions.
Context-only references
AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026)

Original source ↗

Methods 'Experimental splicing screen of DNM1 intron' (pages 43 to 44); Results paragraph on DNM1 (page 8)

Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages)
Retrieved: 2026-10-19T12:19:03Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.label_semantics

Source artifact SHA-256: b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453

Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256.

Inspected artifact

Source location
Methods 'Experimental splicing screen of DNM1 intron' (pages 43 to 44); Results paragraph on DNM1 (page 8)
Context-only references
AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026)

Original source ↗

Methods 'Experimental splicing screen of DNM1 intron' (pages 43 to 44); Results paragraph on DNM1 (page 8)

Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages)
Retrieved: 2026-10-19T12:19:03Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453

Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256.

Inspected artifact

Description
Minigene reporter screen of mutagenised variants in the 265 nt upstream of DNM1 exon 10a, assayed in five cell line and promoter combinations, with variants called active when they shift 3' splice site use.
Context-only references
AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026)

Original source ↗

Methods 'Experimental splicing screen of DNM1 intron' (pages 43 to 44); Results paragraph on DNM1 (page 8)

Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages)
Retrieved: 2026-10-19T12:19:03Z

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453

Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256.

Inspected artifact

Name
DNM1 intron saturation mutagenesis minigene splicing screen (AlphaGenome Atlas Data S1)
Context-only references
AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026)

Original source ↗

Methods 'Experimental splicing screen of DNM1 intron' (pages 43 to 44); Results paragraph on DNM1 (page 8)

Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages)
Retrieved: 2026-10-19T12:19:03Z

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453

Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256.

Inspected artifact

Sources and history

Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

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

Stable ID: ag-atlas-20261019-data-dnm1-intron-screen

areas
dna-genomes
contexts
research
assay
Barcoded minigene splicing reporter, amplicon RNA-seq, three biological replicates; HEK293, KELLY, T47D, A172, DAOY or GAMG cells (five passing cell line and promoter combinations)
label semantics
Active: mean alternative 3' splice site rate above 0.10 across passing conditions and dominant alternative site coherence at least 0.5. 12 intronic variants produced in-frame exon extensions.
source locator
Methods 'Experimental splicing screen of DNM1 intron' (pages 43 to 44); Results paragraph on DNM1 (page 8)
missing metadata
variant count: reason: unreported; note: Numbers of active and inactive variants scored in fig. S9E not printed in the text.
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