Hu 2026 BRCA2 functional-integration classification yield
Integrated functional (SGE) evidence from two combined assay studies applied under the ENIGMA BRCA1/BRCA2 VCEP specification to assign a final P/LP or B/LB classification to each of 6,383 BRCA2 exon 15-26 SNVs. This is classification yield/coverage, not independent clinical accuracy and not a complete clinical review.
Overview
Integrated functional (SGE) evidence from two combined assay studies applied under the ENIGMA BRCA1/BRCA2 VCEP specification to assign a final P/LP or B/LB classification to each of 6,383 BRCA2 exon 15-26 SNVs. This is classification yield/coverage, not independent clinical accuracy and not a complete clinical review.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
1 recorded evaluation, 1 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
Results are available, but no reviewed comparison panel is linked in this release.
All evaluations
1 evaluation · 1 result. Different protocols are not a single leaderboard.
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| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: Integrated VarCall model (combined SGE functional data) | Protocol: Hu 2026 BRCA2 functional-integration classification yield Dataset: Hu 2026 BRCA2 integrated SGE functional-assay cohort | 92.8% (5926/6383) classified_as_p_lp_or_b_lb_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceHu 2026 integrated functional-data classification evaluation Not reported Aggregation: Not reported Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification · Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications": "Thus, 92.8% (5926 of 6383) overall... were classified as P/LP or B/LB." |
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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Recorded evaluations
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Baseline coverage
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- Author-reported evaluations
- 1
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Null control
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This is a suggested selection rule, not a validated method or a measured score.
Conventional reference
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Protocol-specific conventional integration method
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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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Strengths, limitations and unresolved questions
Evidence
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Evidence table
Inspect claims, sources and review details
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1 evidence row matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Relationship: part of uc-clinical-20261005-hu-2026-benchmark Individual claims | Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications" Version: 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied | source checked automated source review · 2026-10-05 Audit detailsTranscription from inspected primary source. No execution, independent replication or human scientific review. Field: Claim: uc-clinical-20261005-hu-2026-membership Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
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Release 2026-10-06-fea06f63ac0e · Record review: source checked
1 source records and release history
- Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification · Original source · 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied
Technical metadata and extraction receipts
Stable ID: uc-clinical-20261005-hu-2026-protocol
- areas
- dna-genomes
- contexts
- clinical_research
- protocol
- Combined SGE functional evidence from two independent BRCA2 assay studies, integrated into ClinGen/ENIGMA BRCA1/BRCA2 classification specifications and applied to all 6,383 cohort SNVs; the reported endpoint is the fraction reaching a final P/LP or B/LB call.
- 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-hu-2026
- limitations
- Classification yield/coverage using integrated functional evidence, not independent clinical accuracy and not a complete clinical review.; BRCA2 only, limited to a single functional-assay-covered domain (exons 15-26); not representative of the full gene or of BRCA1.; Matched six-model comparator panels (N=158 ClinVar, N=316 HDR standards) and all per-model sensitivity/specificity figures are not used in this intake (extraction-reported in the prior dossier, not independently re-verified this pass).; No reviewer time or independent clinical adjudication reported.