rewire.itbenchmarks
Dataset subset

ClinVar disease variants (BEND split)

The split of ClinVar disease variants that BEND evaluated on. The upstream dataset release is not catalogued here, so no claim is made that this matches its original splits.

Research readiness

These checks assess whether the evidence supports a reproducible investigation. A source-checked score alone does not meet these requirements.

Release 2026-09-29-06401fd5b220 · Evidence verified: Not verified

Evidence incomplete

Replay metrics

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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

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  • dependence: verification is missing

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

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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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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.

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Read reviewed discrepancy investigations

Evaluation results

14 evaluations · 14 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
Method: AWD-LSTMTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.45 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

AWD-LSTM on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(AWD-LSTM), column(Noncoding variant effects on disease)
Configuration: DEEPSEATask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.56 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

DEEPSEA on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(Expert method), column(Noncoding variant effects on disease)
Configuration: DNABERT-2Task: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.51 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

DNABERT-2 on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(DNABERT-2), column(Noncoding variant effects on disease)
Configuration: DNABERTTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.56 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

DNABERT on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(DNABERT), column(Noncoding variant effects on disease)
Configuration: GENA-LM BERTTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.55 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

GENA-LM BERT on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(GENA-LM BERT), column(Noncoding variant effects on disease)
Configuration: GENA-LM BigBirdTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.52 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

GENA-LM BigBird on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(GENA-LM BigBird), column(Noncoding variant effects on disease)
Configuration: GROVERTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.51 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

GROVER on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(GROVER), column(Noncoding variant effects on disease)
Configuration: HyenaDNA largeTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.45 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

HyenaDNA large on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(HyenaDNA large), column(Noncoding variant effects on disease)
Configuration: HyenaDNA tinyTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.44 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

HyenaDNA tiny on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(HyenaDNA tiny), column(Noncoding variant effects on disease)
Configuration: NT-1000GTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.49 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

NT-1000G on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(NT-1000G), column(Noncoding variant effects on disease)
Method: NT-HTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.48 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

NT-H on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(NT-H), column(Noncoding variant effects on disease)
Method: NT-MSTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.77 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

NT-MS on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(NT-MS), column(Noncoding variant effects on disease)
Configuration: NT-V2Task: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.48 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

NT-V2 on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(NT-V2), column(Noncoding variant effects on disease)
Method: ResNet-LMTask: BEND VARIANT-DISEASE: Noncoding variant effects on disease
Dataset subset: ClinVar disease variants (BEND split)
0.55 auroc
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

ResNet-LM on BEND VARIANT-DISEASE: Noncoding variant effects on disease

A downstream head trained on frozen embeddings, except for the expert methods and the fully supervised baselines, which are trained end to end. Metric and splits are from Table 1.

Aggregation: Not reported

BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks · Table 3, row(ResNet-LM), column(Noncoding variant effects on disease)

Source checking is not independent reproduction. Release 2026-09-29-06401fd5b220.

Subset and evaluation context

This record describes a particular subset or cohort used in an evaluation. Its results do not describe the full dataset.

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.

2 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-09-29-06401fd5b220
Property and statementOriginal source and locationReview and provenance
description
The split of ClinVar disease variants that BEND evaluated on. The upstream dataset release is not catalogued here, so no claim is made that this matches its original splits.
Context-only references
BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks

Original source ↗

No field-specific location recorded

Version: Primary full-text snapshot retrieved 2026-09-17; exact bytes pinned by SHA-256
Retrieved: 2026-09-17T08:06:28.183228+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: f709b6bef3120eb979c0a0e02d2582475c49410f29850ed7601ba7a700ca379d

Hash scope: Exact retrieved primary paper artifact bytes.

Inspected artifact

name
ClinVar disease variants (BEND split)
Context-only references
BEND: Benchmarking DNA Language Models on Biologically Meaningful Tasks

Original source ↗

No field-specific location recorded

Version: Primary full-text snapshot retrieved 2026-09-17; exact bytes pinned by SHA-256
Retrieved: 2026-09-17T08:06:28.183228+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: f709b6bef3120eb979c0a0e02d2582475c49410f29850ed7601ba7a700ca379d

Hash scope: Exact retrieved primary paper artifact bytes.

Inspected artifact

Sources and history

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Release 2026-09-29-06401fd5b220 · Record review: source checked

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

Stable ID: bend-dataset-clinvar-disease-variants

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