rewire.it
Task

regulatory-variant scoring

Regulatory-variant scoring is assessed against DART-Eval quantitative-trait-locus effect annotations.

SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

1 evaluation · 1 metric row

At a glance

Inputs, training, access and other details

Explanatory profile: limited source coverage · Automated source review, 2026-09-16. Review applies to the cited claims; unresolved fields are listed below. Numerical results retain their own review status.

Data, procedure and scoring
PropertyDescription and evidence
DatasetsDNase-sensitivity QTLs and chromatin-accessibility QTLs used in DART-Eval.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
SplitsThe paper describes chromosome-separated pretraining partitions; evaluation is zero-shot variant scoring.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
MetricsPredicted allele scores are compared with observed effects; correlation analysis is restricted to variants with significant observed effects.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
BaselinesFigure 4 compares with DNA-language-model scores taken from DART-EVAL and includes an ARSENAL No Prior ablation. These are imported zero-shot likelihood-scoring comparisons, separate from the paper’s supervised ChromBPNet experiments.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Results: zero-shot regulatory-QTL scoring, Fig.4 caption; Methods: Zero-shot Variant Effect Prediction
Leakage controlsThe variant experiment uses no variant-annotation supervision and evaluates significant-effect QTLs. The zero-shot methods do not document removal of these QTL loci from sequence pretraining; chromosome splits described for pretraining and supervised models are not an explicit QTL-overlap audit. · Not reported in inspected sources
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Zero-shot Variant Effect Prediction; pretraining partitions; Supervised Model Training; Fig.4
UncertaintyThe zero-shot results and Figure 4 caption do not specify a QTL resampling unit, replicate count or confidence-interval procedure. Variability reported in the supervised ChromBPNet comparison does not establish uncertainty for these zero-shot correlations. · Not reported in inspected sources
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Zero-shot regulatory-QTL results and Fig.4 caption; Methods: Zero-shot Variant Effect Prediction
Entity typePaper-specific computational evaluation protocol.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
OrganismsHuman.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
AssaysDNase-sensitivity and chromatin-accessibility QTL annotations.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
Allowed inputsReference/alternate DNA sequences at the evaluated variants.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
AdaptationZero-shot variant scoring; pretraining chromosome partitions are separate from the QTL evaluation.
SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

How it works

How it worksComputational evaluation flow
Computational evaluation flow1. Input: Reference/alternate DNA sequences at the evaluated variants.. Then: 2. Evaluation: Zero-shot variant scoring; pretraining chromosome partitions are separate from the QTL evaluation.. Then: 3. Readout: Predicted allele scores are compared with observed effects; correlation analysis is restricted to variants with significant observed effects.Computational evaluation flow1. Input: Reference/alternate DNA sequences at the evaluated variants.. Then: 2. Evaluation: Zero-shot variant scoring; pretraining chromosome partitions are separate from the QTL evaluation.. Then: 3. Readout: Predicted allele scores are compared with observed effects; correlation analysis is restricted to variants with significant observed effects.Computational evaluation flow1. Input: Reference/alternate DNA sequences at the evaluated variants.. Then: 2. Evaluation: Zero-shot variant scoring; pretraining chromosome partitions are separate from the QTL evaluation.. Then: 3. Readout: Predicted allele scores are compared with observed effects; correlation analysis is restricted to variants with significant observed effects.

Conceptual summary of the cited evaluation; exact task configuration and source version remain part of the protocol.

SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89
Evaluation methodology

DNase-sensitivity QTLs and chromatin-accessibility QTLs used in DART-Eval. The paper describes chromosome-separated pretraining partitions; evaluation is zero-shot variant scoring. Predicted allele scores are compared with observed effects; correlation analysis is restricted to variants with significant observed effects.

SourcesShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Recorded evaluations

Each evaluation records what was tested and under which conditions.

Tested entities and results

Release 2026-09-17-d277315f7d76 · 1 evaluation · 1 metric row. Different protocols are not a single leaderboard.

Results grouped by the exact reported evaluation
Metric and findingCoverage and uncertaintyEvidence
ARSENAL+ChromBPNet: regulatory-variant scoring

Supervised ChromBPNet variant scoring with ARSENAL motif-discovery regularization

Author-reported evaluation · Evaluation metadata: needs review

0.896 AUROC

Unit: fraction · Direction: unknown

Uncertainty: ±0.016

Scored: Not reported · Eligible: Not reported

source checkedShort-Context Regulatory DNA Language Models with Motif-Discovery Regularization · Table 1, Yoruban LCL dsQTLs section, ARSENAL+ChromBPNet row, AUROC column

Source checking is not independent reproduction.

Papers and result coverage

Last literature check: 2026-09-17. Primary-paper discovery and source inspection. Source-checked results are not independently reproduced experiments.

Paper or primary resourceVersionReference
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularizationpreprint version in PMCRead source
DOI: 10.64898/2026.02.05.703637

What is still missing

  • These are trained hybrid models, not zero-shot ARSENAL scores.
  • Keep QTL cohorts and Pearson/Spearman/AUROC separate; verify printed ± definition before plotting error bars.
Search and extraction details

primary comparison table screened

Searches

  • "PMC12889687"

Evidence locations

  • Table 1
  • Methods: Pretraining Data; Supervised Model Training

Strengths and limitations

Strengths and considerations

No source-reviewed explanatory claims are recorded here yet.

Limitations and conditions

Profile review details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Stable record: reported-task-b9199a30a0bcb2

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.

17 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-09-17-d277315f7d76
Property and statementOriginal source and locationReview and provenance
Diagram caption

Conceptual summary of the cited evaluation; exact task configuration and source version remain part of the protocol.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.diagram.caption

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Diagram steps

["Input: Reference/alternate DNA sequences at the evaluated variants.","Evaluation: Zero-shot variant scoring; pretraining chromosome partitions are separate from the QTL evaluation.","Readout: Predicted allele scores are compared with observed effects; correlation analysis is restricted to variants with significant observed effects."]

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.diagram.steps

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Diagram title

Computational evaluation flow

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.diagram.title

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Datasets

DNase-sensitivity QTLs and chromatin-accessibility QTLs used in DART-Eval.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.facts.0.value

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Splits

The paper describes chromosome-separated pretraining partitions; evaluation is zero-shot variant scoring.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.facts.1.value

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Adaptation

Zero-shot variant scoring; pretraining chromosome partitions are separate from the QTL evaluation.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.facts.10.value

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Metrics

Predicted allele scores are compared with observed effects; correlation analysis is restricted to variants with significant observed effects.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.facts.2.value

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Baselines

Figure 4 compares with DNA-language-model scores taken from DART-EVAL and includes an ARSENAL No Prior ablation. These are imported zero-shot likelihood-scoring comparisons, separate from the paper’s supervised ChromBPNet experiments.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Results: zero-shot regulatory-QTL scoring, Fig.4 caption; Methods: Zero-shot Variant Effect Prediction

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

source checked

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.facts.3.value

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Leakage controls

The variant experiment uses no variant-annotation supervision and evaluates significant-effect QTLs. The zero-shot methods do not document removal of these QTL loci from sequence pretraining; chromosome splits described for pretraining and supervised models are not an explicit QTL-overlap audit.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Zero-shot Variant Effect Prediction; pretraining partitions; Supervised Model Training; Fig.4

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

unreported

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.facts.4.value

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Uncertainty

The zero-shot results and Figure 4 caption do not specify a QTL resampling unit, replicate count or confidence-interval procedure. Variability reported in the supervised ChromBPNet comparison does not establish uncertainty for these zero-shot correlations.

Individual claims
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization

Original source ↗

Zero-shot regulatory-QTL results and Fig.4 caption; Methods: Zero-shot Variant Effect Prediction

Version: preprint version in PMC
Retrieved: 2026-09-16T10:41:06Z

unreported

automated source review · 2026-09-16

Audit details

Relevant full-paper computational evaluation sections, tables/captions and cited supplementary task passages were reviewed. Reporting omissions are scoped to the inspected sources. Original numerical results are unchanged.

Field: attributes.profile.facts.5.value

Source artifact SHA-256: 4a264956e47fc633aaff6573aac368dc691dd5de709b27c7421c078608ff542a

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

Inspected artifact

Sources and history

Release 2026-09-17-d277315f7d76 · Record review: needs review

2 source records and release historyDownload this release
Technical metadata and extraction receipts

Stable ID: reported-task-b9199a30a0bcb2

areas
dna-genomes
tasks
regulatory-variant scoring
entity level
task
version
Not reported
task
regulatory-variant scoring
scope note
Paper-specific evaluation task; protocol completeness requires further extraction.
benchmark research
review date: 2026-09-17; status: primary_comparison_table_screened; primary sources: expansion-p3-arsenal-regulatory-dna-2026; inspected locators: Table 1; Methods: Pretraining Data; Supervised Model Training; searched queries: "PMC12889687"; gaps: These are trained hybrid models, not zero-shot ARSENAL scores.; Keep QTL cohorts and Pearson/Spearman/AUROC separate; verify printed ± definition before plotting error bars.; claim scope: Primary-paper discovery and source inspection. Source-checked results are not independently reproduced experiments.
historical missing metadata
protocol version: not_reported_in_legacy_extract; split: not_reported_in_legacy_extract
metadata review scope
historical_missing_metadata preserves the original discovery state. Current descriptive evidence and missingness are recorded in profile.facts; numerical-result review is separate.
legacy kinds
benchmark
entity classification
review date: 2026-09-17; rationale: This source-scoped record identifies the biological prediction task and holds its paper context. Preserve the existing task identity; exact split, model adaptation and scoring remain in linked evaluations or separate protocol records.; source ids: arsenal-regulatory-dna-2026; source locator: Methods: Zero-Shot Variant Effect Prediction; Pretraining Data; cached text lines 50–52, 85–89; ambiguities: A paper- or suite-specific task may constrain some inputs or metrics; that alone does not make it interchangeable with a complete versioned protocol. No protocol equivalence is inferred.; Some legacy profile Entity type facts use the generic phrase computational evaluation protocol. That boilerplate is not sufficient to establish a single fixed protocol identity or to merge this task with another protocol record.
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