rewirebio.iobenchmarks
Evaluation

GERP++ on HGMD/gnomAD missense, head to head against ESM1b (Brandes et al. 2023)

Published comparison transcribed from the pinned source; not reproduced.

Evaluation results

1 evaluation · 2 results. Different protocols are not a single leaderboard.

Protocol: HGMD/gnomAD 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: HGMD/gnomAD missense variants scored by both ESM1b and GERP++ (Brandes et al. 2023)

Sorted by 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) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

Tested configurationAUPRC (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)AUROC (global ROC-AUC over the variants both methods score; zero-shot)
GERP++ (Brandes et al. 2023 clinical benchmarks)Evaluation0.7620.809
All 2 result rows with coverage, uncertainty and sources
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Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: GERP++ (Brandes et al. 2023 clinical benchmarks)Protocol: HGMD/gnomAD 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: HGMD/gnomAD missense variants scored by both ESM1b and GERP++ (Brandes et al. 2023)
0.762 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

GERP++ on HGMD/gnomAD missense, head to head against ESM1b (Brandes et al. 2023)

gfm-guides-20261014-esm1b-protocol-hgmd-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_HGMD' cell G15, row 'GERP++', column 'head2head_VEP_auc_Balanced_AUPRC'
Configuration: GERP++ (Brandes et al. 2023 clinical benchmarks)Protocol: HGMD/gnomAD 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: HGMD/gnomAD missense variants scored by both ESM1b and GERP++ (Brandes et al. 2023)
0.809 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

GERP++ on HGMD/gnomAD missense, head to head against ESM1b (Brandes et al. 2023)

gfm-guides-20261014-esm1b-protocol-hgmd-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_HGMD' cell E15, row 'GERP++', 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

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  • 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.

Evaluation procedure

HGMD/gnomAD 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)

Configuration
GERP++ (Brandes et al. 2023 clinical benchmarks)
Protocol
HGMD/gnomAD 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
HGMD/gnomAD missense variants scored by both ESM1b and GERP++ (Brandes et al. 2023)
origin
Independent external evaluation
configuration
Supplementary Table 2 as retrieved 2026-10-14
protocol id
gfm-guides-20261014-esm1b-protocol-hgmd-head-to-head
dataset version
Not reported
split
Variants scored by both ESM1b and GERP++
population
87493 variants (head2head_n_variants)
inputs
Precomputed per-variant scores
adaptation
zero-shot
metric implementation
Global ROC-AUC; balanced PRC-AUC averaged over 100 balanced downsamples
aggregation
Pooled over variants
budget
Not reported

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

Reproduction

Split
Variants scored by both ESM1b and GERP++
Adaptation
zero-shot
Scoring implementation
Global ROC-AUC; balanced PRC-AUC averaged over 100 balanced downsamples

No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.

Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.

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.

38 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
Comparison: adaptation
zero-shot
Context-only references
Genome-wide prediction of disease variant effects with a deep protein language model (Brandes et al., Nature Genetics 2023)

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: 919ca366369efbe7e0880565192de127375edddedb1aa43ad023dec612bb4a04

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

Archive member: artifacts/brandes2023-pmc10484790.xml.gz

Inspected artifact

Comparison: adaptation
zero-shot
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_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

independent paper

Audit details

Field: attributes.comparison.adaptation

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

Comparison: aggregation
Pooled over variants
Context-only references
Genome-wide prediction of disease variant effects with a deep protein language model (Brandes et al., Nature Genetics 2023)

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: 919ca366369efbe7e0880565192de127375edddedb1aa43ad023dec612bb4a04

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

Archive member: artifacts/brandes2023-pmc10484790.xml.gz

Inspected artifact

Comparison: aggregation
Pooled over 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_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

independent paper

Audit details

Field: attributes.comparison.aggregation

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

Comparison: budget
Not reported
Context-only references
Genome-wide prediction of disease variant effects with a deep protein language model (Brandes et al., Nature Genetics 2023)

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: 919ca366369efbe7e0880565192de127375edddedb1aa43ad023dec612bb4a04

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

Archive member: artifacts/brandes2023-pmc10484790.xml.gz

Inspected artifact

Comparison: budget
Not reported
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_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

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

Comparison: dataset version
Not reported
Context-only references
Genome-wide prediction of disease variant effects with a deep protein language model (Brandes et al., Nature Genetics 2023)

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: 919ca366369efbe7e0880565192de127375edddedb1aa43ad023dec612bb4a04

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

Archive member: artifacts/brandes2023-pmc10484790.xml.gz

Inspected artifact

Comparison: dataset version
Not reported
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_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

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

Comparison: inputs
Precomputed per-variant scores
Context-only references
Genome-wide prediction of disease variant effects with a deep protein language model (Brandes et al., Nature Genetics 2023)

Original source ↗

Supplementary Table 2 sheet 'Table_of_results_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: 919ca366369efbe7e0880565192de127375edddedb1aa43ad023dec612bb4a04

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

Archive member: artifacts/brandes2023-pmc10484790.xml.gz

Inspected artifact

Comparison: inputs
Precomputed per-variant 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_HGMD' row 15 ('GERP++'), columns E-I

Shared locator for this statement’s cited sources; not a separate locator for each citation.

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

independent paper

Audit details

Field: attributes.comparison.inputs

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

How to read the evidence

Sources and history

Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

2 source records and release historyDownload this release (gzip)
Technical metadata and extraction receipts

Stable ID: gfm-guides-20261014-esm1b-eval-hgmd-h2h-gerp-vep

areas
dna-genomes; protein-function
contexts
clinical_research
origin
independent_paper
protocol
gfm-guides-20261014-esm1b-protocol-hgmd-head-to-head
version
Supplementary Table 2 as retrieved 2026-10-14
comparison
protocol id: gfm-guides-20261014-esm1b-protocol-hgmd-head-to-head; dataset version: Not reported; split: Variants scored by both ESM1b and GERP++; population: 87493 variants (head2head_n_variants); inputs: Precomputed per-variant scores; adaptation: zero-shot; metric implementation: Global ROC-AUC; balanced PRC-AUC averaged over 100 balanced downsamples; aggregation: Pooled over variants; budget: Not reported
denominator
87493
source locator
Supplementary Table 2 sheet 'Table_of_results_HGMD' row 15 ('GERP++'), columns E-I
missing metadata
comparison.budget: reason: inapplicable; note: Precomputed scores; comparison.dataset version: reason: unreported; note: Download dates of the EVE-portal ClinVar file and HGMD release not printed
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