rewire.itbenchmarks
Dataset

ENIGMA Evidence Repository (eRepo) BRCA1/BRCA2 reference set

143 BRCA1/BRCA2 variants curated end-to-end under the ENIGMA BRCA1/BRCA2 VCEP V1.2 specification in the ClinGen Evidence Repository (erepo.genome.network), used by the source as a clinical-grade reference standard.

Research readiness

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

Release 2026-10-06-fea06f63ac0e · 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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • metric replay: verification is missing

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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • metric replay: verification is missing
  • annotations: verification is missing
  • dependence: verification is missing

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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • recipe pinned: verification is missing
  • resource estimate: verification is missing

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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • independent validation: verification is missing
  • overlap checked: verification is missing

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.

Read reviewed discrepancy investigations

Evaluation results

1 evaluation · 2 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: HECTOR automated classifier (ENIGMA V1.2 specification)Protocol: HECTOR vs. ENIGMA Evidence Repository (eRepo) agreement
Dataset: ENIGMA Evidence Repository (eRepo) BRCA1/BRCA2 reference set
75.5% (108/143) classification_agreement_rate
percent · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

HECTOR eRepo concordance evaluation

Not reported

Aggregation: Not reported

HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications · Results, "Evidence Repository": "At the classification level, HECTOR agreed with the ENIGMA VCEP classification for 108 of the 143 variants (75.5%)."
Configuration: HECTOR automated classifier (ENIGMA V1.2 specification)Protocol: HECTOR vs. ENIGMA Evidence Repository (eRepo) agreement
Dataset: ENIGMA Evidence Repository (eRepo) BRCA1/BRCA2 reference set
78.9% (326/413) criteria_code_agreement_rate
percent · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

HECTOR eRepo concordance evaluation

Not reported

Aggregation: Not reported

HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications · Results, "Evidence Repository": "...the ENIGMA VCEP applied 413 evidence codes, of which HECTOR reproduced 326 (78.9%) at the identical code and strength (Figure 1)."

Source checking is not independent reproduction. Release 2026-10-06-fea06f63ac0e.

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 2026-10-06-fea06f63ac0e
Property and statementOriginal source and locationReview and provenance
attributes.evidence_code_count
413
Context-only references
HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

Original source ↗

Methods, "Validation Tier 1 - ENIGMA Evidence Repository"

Version: medRxiv preprint v1, posted 2026-07-06
Retrieved: 2026-10-05T13:55:48Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.evidence_code_count

Source artifact SHA-256: 9e32765476c5d6c61fcb408420916c712890bec3fb1e672f58bedca69142abc0

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

Inspected artifact

attributes.source_locator
Methods, "Validation Tier 1 - ENIGMA Evidence Repository"
Context-only references
HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

Original source ↗

Methods, "Validation Tier 1 - ENIGMA Evidence Repository"

Version: medRxiv preprint v1, posted 2026-07-06
Retrieved: 2026-10-05T13:55:48Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: 9e32765476c5d6c61fcb408420916c712890bec3fb1e672f58bedca69142abc0

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

Inspected artifact

attributes.variant_count
143
Context-only references
HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

Original source ↗

Methods, "Validation Tier 1 - ENIGMA Evidence Repository"

Version: medRxiv preprint v1, posted 2026-07-06
Retrieved: 2026-10-05T13:55:48Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.variant_count

Source artifact SHA-256: 9e32765476c5d6c61fcb408420916c712890bec3fb1e672f58bedca69142abc0

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

Inspected artifact

description
143 BRCA1/BRCA2 variants curated end-to-end under the ENIGMA BRCA1/BRCA2 VCEP V1.2 specification in the ClinGen Evidence Repository (erepo.genome.network), used by the source as a clinical-grade reference standard.
Context-only references
HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

Original source ↗

Methods, "Validation Tier 1 - ENIGMA Evidence Repository"

Version: medRxiv preprint v1, posted 2026-07-06
Retrieved: 2026-10-05T13:55:48Z

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: 9e32765476c5d6c61fcb408420916c712890bec3fb1e672f58bedca69142abc0

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

Inspected artifact

name
ENIGMA Evidence Repository (eRepo) BRCA1/BRCA2 reference set
Context-only references
HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

Original source ↗

Methods, "Validation Tier 1 - ENIGMA Evidence Repository"

Version: medRxiv preprint v1, posted 2026-07-06
Retrieved: 2026-10-05T13:55:48Z

not individually reviewed

No individual claim review recorded

Audit details

Field: name

Source artifact SHA-256: 9e32765476c5d6c61fcb408420916c712890bec3fb1e672f58bedca69142abc0

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

Inspected artifact

Sources and history

View linked audit checks and correction history

Release 2026-10-06-fea06f63ac0e · Record review: source checked

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

Stable ID: uc-clinical-20261005-hector-erepo-cohort

areas
dna-genomes
contexts
clinical_research
variant count
143
evidence code count
413
source locator
Methods, "Validation Tier 1 - ENIGMA Evidence Repository"
review
method: automated_source_review; reviewer: Claude Sonnet clinical coverage worker (research-evidence intake); date: 2026-10-05; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20261005-source-hector-preprint
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