rewirebio.iobenchmarks
Dataset subset

ClinVar missense variants scored by both ESM1b and FATHMM (Brandes et al. 2023)

The 38,150 variants of the ClinVar missense benchmark that have both an ESM1b and a FATHMM score.

Evaluation results

2 evaluations · 4 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: ESM1b (Brandes et al. 2023 clinical benchmarks)Protocol: ClinVar missense pathogenicity, ESM1b head to head with one other method on the variants both score (Brandes et al. 2023 Fig. 2g,h, Supplementary Table 2)
Dataset subset: ClinVar missense variants scored by both ESM1b and FATHMM (Brandes et al. 2023)
0.906 AUPRC (balanced PRC-AUC over the variants both methods score: mean over 100 random downsamples to equal pathogenic and benign counts (80% of the minority class); zero-shot)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

ESM1b on ClinVar missense, head to head against FATHMM (Brandes et al. 2023)

gfm-guides-20261014-esm1b-protocol-clinvar-head-to-head

Aggregation: Not reported

Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods · Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell H29, row 'FATHMM', column 'head2head_ESM1b_auc_Balanced_AUPRC'
Configuration: ESM1b (Brandes et al. 2023 clinical benchmarks)Protocol: ClinVar missense pathogenicity, ESM1b head to head with one other method on the variants both score (Brandes et al. 2023 Fig. 2g,h, Supplementary Table 2)
Dataset subset: ClinVar missense variants scored by both ESM1b and FATHMM (Brandes et al. 2023)
0.906 AUROC (global ROC-AUC over the variants both methods score; zero-shot)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

ESM1b on ClinVar missense, head to head against FATHMM (Brandes et al. 2023)

gfm-guides-20261014-esm1b-protocol-clinvar-head-to-head

Aggregation: Not reported

Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods · Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell F29, row 'FATHMM', column 'head2head_ESM1b_auc_AUROC'
Configuration: FATHMM (Brandes et al. 2023 head-to-head comparison)Protocol: ClinVar missense pathogenicity, ESM1b head to head with one other method on the variants both score (Brandes et al. 2023 Fig. 2g,h, Supplementary Table 2)
Dataset subset: ClinVar missense variants scored by both ESM1b and FATHMM (Brandes et al. 2023)
0.801 AUPRC (balanced PRC-AUC over the variants both methods score: mean over 100 random downsamples to equal pathogenic and benign counts (80% of the minority class); zero-shot)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

FATHMM on ClinVar missense, head to head against ESM1b (Brandes et al. 2023)

gfm-guides-20261014-esm1b-protocol-clinvar-head-to-head

Aggregation: Not reported

Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods · Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell G29, row 'FATHMM', column 'head2head_VEP_auc_Balanced_AUPRC'
Configuration: FATHMM (Brandes et al. 2023 head-to-head comparison)Protocol: ClinVar missense pathogenicity, ESM1b head to head with one other method on the variants both score (Brandes et al. 2023 Fig. 2g,h, Supplementary Table 2)
Dataset subset: ClinVar missense variants scored by both ESM1b and FATHMM (Brandes et al. 2023)
0.788 AUROC (global ROC-AUC over the variants both methods score; zero-shot)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

FATHMM on ClinVar missense, head to head against ESM1b (Brandes et al. 2023)

gfm-guides-20261014-esm1b-protocol-clinvar-head-to-head

Aggregation: Not reported

Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods · Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell E29, row 'FATHMM', column 'head2head_VEP_auc_AUROC'

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.

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.

8 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
Scored count
38150
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.scored_count

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

Inspected artifact

Source dataset label
ClinVar
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_dataset_label

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

Inspected artifact

Source location
Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

Inspected artifact

Split
Whole labelled set restricted to variants scored by both methods
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

Inspected artifact

Subset scope
Variants with both ESM1b and FATHMM scores
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.subset_scope

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

Inspected artifact

Description
The 38,150 variants of the ClinVar missense benchmark that have both an ESM1b and a FATHMM score.
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

Inspected artifact

Relationship: used in
gfm-guides-20261014-esm1b-protocol-clinvar-head-to-head
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: links:used_in:gfm-guides-20261014-esm1b-protocol-clinvar-head-to-head

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

Inspected artifact

Name
ClinVar missense variants scored by both ESM1b and FATHMM (Brandes et al. 2023)
Context-only references
Brandes et al. 2023 Supplementary Table 2: full benchmark evaluations of ESM1b and all other methods

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'

Version: Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Retrieved: 2026-10-14T12:03:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: 093c32e4156a801c0dd809a437c87818a4f1d04df92e037cf40222471a3e72e2

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

Archive member: artifacts/brandes2023-supplementary-table-2.xlsx.gz

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: gfm-guides-20261014-esm1b-data-clinvar-h2h-fathmm

areas
dna-genomes; protein-function
contexts
clinical_research
split
Whole labelled set restricted to variants scored by both methods
scored count
38150
source dataset label
ClinVar
subset scope
Variants with both ESM1b and FATHMM scores
source locator
Supplementary Table 2 sheet 'Table_of_results_ClinVar' cell I29, row 'FATHMM', column 'head2head_n_variants'
missing metadata
version: reason: unreported; note: Download dates of the EVE-portal ClinVar file and HGMD release not printed
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