rewire.itbenchmarks
Protocol

HECTOR vs. ENIGMA Evidence Repository (eRepo) agreement

HECTOR's automated five-tier classification and evidence-code assignment compared against the ENIGMA VCEP's expert-curated classifications and codes for the same 143 Evidence Repository variants. Agreement with the ENIGMA VCEP's expert-curated classifications and evidence-code assignments in the ClinGen Evidence Repository (eRepo), not independent accuracy; not peer reviewed.

1 evaluation · 2 results

Overview

HECTOR's automated five-tier classification and evidence-code assignment compared against the ENIGMA VCEP's expert-curated classifications and codes for the same 143 Evidence Repository variants. Agreement with the ENIGMA VCEP's expert-curated classifications and evidence-code assignments in the ClinGen Evidence Repository (eRepo), not independent accuracy; not peer reviewed.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

1 recorded evaluation, 2 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

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Results

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

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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.

Methods and evaluation design

Procedure, tasks and evaluated configurations

Evaluation design

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Baseline coverage

Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.

0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.

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Author-reported evaluations
1

Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.

Null control

Proposed control: requires review

Training-set class prior where supervised fitting is permitted

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Conventional reference

Proposed control: requires review

Regularised classifier on simple permitted features, or protocol's conventional reference

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Protocol coverage CSV · Model evaluation matrix · Source table · Release and checksums

Coverage is derived from release 2026-10-06-fea06f63ac0e. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.

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No runnable recipe has been reviewed for this protocol. Dataset access, model requirements, licences and compute requirements must be checked against its sources before execution.

Strengths, limitations and unresolved questions

Evidence

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Evidence table

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One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

1 evidence row matching the loaded filters

Claims, original sources and review scope · Release 2026-10-06-fea06f63ac0e
Property and statementOriginal source and locationReview and provenance
Relationship: part of
uc-clinical-20261005-hector-benchmark
Individual claims
HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

Original source ↗

Results, "Evidence Repository"

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

source checked

automated source review · 2026-10-05

Audit details

Transcription from inspected primary source. No execution, independent replication or human scientific review.

Field: links:part_of:uc-clinical-20261005-hector-benchmark

Claim: uc-clinical-20261005-hector-membership

Source artifact SHA-256: 9e32765476c5d6c61fcb408420916c712890bec3fb1e672f58bedca69142abc0

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

Inspected artifact

Sources and history

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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-protocol

areas
dna-genomes
contexts
clinical_research
protocol
HECTOR's automatically derived five-tier classification and ACMG/AMP evidence codes compared, variant by variant and code by code, against the ENIGMA VCEP's expert-panel classifications and codes for the 143 eRepo variants.
publication status
preprint_not_peer_reviewed
review
method: automated_source_review; reviewer: Claude Sonnet clinical coverage worker (research-evidence intake); date: 2026-10-06; note: Transcription from inspected primary source. No execution, independent replication or human scientific review. Corrected 2026-10-06: the eRepo comparator was re-verified live against the preprint and relabelled from "ClinVar expert-panel" to the ENIGMA VCEP's expert-curated classifications and evidence-code assignments in the ClinGen Evidence Repository (eRepo); no numeric values changed.; source id: uc-clinical-20261005-source-hector-preprint
limitations
Preprint, not peer reviewed; no independent adjudication of either tool's calls.; Measures agreement with the ENIGMA VCEP's expert-curated classifications and evidence-code assignments in the ClinGen Evidence Repository (eRepo), not independent accuracy against a separately adjudicated ground truth.; No reviewer time measured.
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