BayesDel
Computational variant-effect scoring method; study applies gene-specific evidence calibration.
4 evaluations · 34 results14 configurations with further results
Overview
An explanatory profile has not yet been reviewed for this record.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
Evaluations and results
4 evaluations · 34 results. Different protocols are not a single leaderboard.
Sorted by Proportion (benign reference variants assigned BP4) (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 configuration | Protocol and dataset | Proportion (benign reference variants assigned BP4) | Proportion (benign reference variants assigned PP3) | Proportion (interval: high, benign) | Proportion (interval: high, pathogenic) | Proportion (interval: low, benign) | Proportion (interval: low, pathogenic) | Count (interval: high, benign) | Count (interval: high, pathogenic) | Count (interval: low, benign) | Count (interval: low, pathogenic) | Count (interval: middle, benign) | Count (interval: middle, pathogenic) | Likelihood ratio (interval: high) | Likelihood ratio (interval: low) | Likelihood ratio (interval: middle) | Proportion (interval: middle, benign) | Proportion (interval: middle, pathogenic) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BayesDel generic Pejaver evidence thresholds in ENIGMA comparisonEvaluation | BRCA1 generic BayesDel threshold evidence-code assignment, BRCA1 functional reference calibration set | <10% | 29% (best in column) | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported |
| BayesDel with ENIGMA BRCA gene-specific score categoriesEvaluation | BRCA1 BayesDel evidence calibration, BRCA1 functional reference calibration set | Not reported | Not reported | 12% | 83% (best in column) | 74% (best in column) | 7% (best in column) | 149 | 377 | 946 | 34 | 183 | 45 | 7.09 | 0.1 | 0.69 | 14% | 10% |
| BayesDel generic Pejaver evidence thresholds in ENIGMA comparisonEvaluation | BRCA2 generic BayesDel threshold evidence-code assignment, BRCA2 functional reference calibration set | <10% | 36% | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported | Not reported |
| BayesDel with ENIGMA BRCA gene-specific score categoriesEvaluation | BRCA2 BayesDel evidence calibration, BRCA2 functional reference calibration set | Not reported | Not reported | 10% (best in column) | 66% | 74% (best in column) | 16% | 29 | 88 | 216 | 21 | 46 | 25 | 6.59 | 0.21 | 1.18 | 16% | 19% |
All 34 result rows with coverage, uncertainty and sources
Filter evaluations
Applied filters: All linked evaluations
Source checking is not independent reproduction. Release 2026-10-22-1b7cf027e4f6.
Further results on linked records
14 linked records have results that are not included above, because no reviewed claim yet ties the link to this method. Each record keeps its own settings and evaluations, and its scores are on its own page.
- BayesDEL_MaxAF_genespecific (Cubuk et al. 2021) Configuration · configuration · 2 evaluations · 5 results
- BayesDEL_MaxAF_universal (Cubuk et al. 2021) Configuration · configuration · 2 evaluations · 5 results
- BayesDEL_NoMaxAF_genespecific (Cubuk et al. 2021) Configuration · configuration · 2 evaluations · 5 results
- BayesDEL_NoMaxAF_universal (Cubuk et al. 2021) Configuration · configuration · 2 evaluations · 6 results
- BayesDel, BP4 ≤0.15 and PP3 ≥0.28 (Ramadane-Morchadi et al. 2025) Configuration · configuration · 2 evaluations · 8 results
- BayesDel (no AF) (Brandes et al. 2023 head-to-head comparison) Configuration · configuration · 2 evaluations · 4 results
- BayesDel (with AF) (Brandes et al. 2023 head-to-head comparison) Configuration · configuration · 2 evaluations · 4 results
- BayesDel_addAF rank score, dbNSFP 5.3.1a (Lee 2026) Configuration · configuration · 3 evaluations · 6 results
- BayesDel_noAF rank score, dbNSFP 5.3.1a (Lee 2026) Configuration · configuration · 3 evaluations · 6 results
- BayesDel (Livesey and Marsh 2025) Configuration · configuration · 6 evaluations · 7 results
- BayesDel_noAF (Livesey and Marsh 2025) Configuration · configuration · 6 evaluations · 7 results
- BayesDel (addAF) [ProteinGym 144fe22 clinical summary] Configuration · configuration · 1 evaluation · 1 result
- BayesDel (noAF) [ProteinGym 144fe22 clinical summary] Configuration · configuration · 1 evaluation · 1 result
- BayesDel (Pejaver et al. 2022 calibration) Configuration · configuration · 2 evaluations · 17 results
Use this method
How it works, versions and access
Versions and evaluated configurations
- BayesDel with ENIGMA BRCA gene-specific score categories · configuration of
- BayesDel generic Pejaver evidence thresholds in ENIGMA comparison · configuration of
Strengths, limitations and unresolved questions
Evidence
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Evidence table
Inspect claims, sources and review details
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One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
2 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
Facets: method types1 values
| ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence Matches the other 7 BayesDel configurations; Ramadane 2025 calls BayesDel a meta-predictor Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: American Journal of Human Genetics 112(5):993, published 2025; PMC12120176 full-text XML | conflicting claim ["source-hash-verification","automated-source-review"] · 2026-10-12 Audit detailsCorrect the method type from none to supervised_machine_learning (use-case baseline review 2026-10-12, table 2). Evidence from docs/reviews/use-cases/baselines-2026-10-12.md. Independent review 2026-10-12: approved. See docs/reviews/2026-10-12-method-type-corrections.md. Conflicting source claim: Field: Claim: metadata-correction-tags-20261012-fbd56a605d0c73b4a368 Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record Extraction artifact SHA-256: |
Facets: method types1 values
| Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Matches the other 7 BayesDel configurations; Ramadane 2025 calls BayesDel a meta-predictor Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 2024 final article; reported VCEP specifications v1.0 | conflicting claim ["source-hash-verification","automated-source-review"] · 2026-10-12 Audit detailsCorrect the method type from none to supervised_machine_learning (use-case baseline review 2026-10-12, table 2). Evidence from docs/reviews/use-cases/baselines-2026-10-12.md. Independent review 2026-10-12: approved. See docs/reviews/2026-10-12-method-type-corrections.md. Conflicting source claim: Field: Claim: metadata-correction-tags-20261012-fbd56a605d0c73b4a368 Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record Extraction artifact SHA-256: |
Sources and history
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
1 source record and release history
- Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel · Original source · 2024 final article; reported VCEP specifications v1.0
Technical metadata and extraction receipts
Stable ID: uc-clinical-20260930-method-bayesdel
- areas
- dna-genomes
- contexts
- clinical_research
- method types
- supervised_machine_learning
- source locator
- Results; Table 2; reference 22
- review
- method: automated-source-review; reviewer: codex; date: 2026-09-30; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20260930-source-enigma; reviewer note: role: clinical coverage worker
Related records
- configuration of: BayesDEL_MaxAF_genespecific (Cubuk et al. 2021)
- configuration of: BayesDEL_MaxAF_universal (Cubuk et al. 2021)
- configuration of: BayesDEL_NoMaxAF_genespecific (Cubuk et al. 2021)
- configuration of: BayesDEL_NoMaxAF_universal (Cubuk et al. 2021)
- configuration of: BayesDel, BP4 ≤0.15 and PP3 ≥0.28 (Ramadane-Morchadi et al. 2025)
- configuration of: BayesDel (no AF) (Brandes et al. 2023 head-to-head comparison)
- configuration of: BayesDel (with AF) (Brandes et al. 2023 head-to-head comparison)
- subject: BayesDel: facets.method_types
- configuration of: BayesDel_addAF rank score, dbNSFP 5.3.1a (Lee 2026)
- configuration of: BayesDel_noAF rank score, dbNSFP 5.3.1a (Lee 2026)
- configuration of: BayesDel with ENIGMA BRCA gene-specific score categories
- configuration of: BayesDel generic Pejaver evidence thresholds in ENIGMA comparison
- configuration of: BayesDel (Livesey and Marsh 2025)
- configuration of: BayesDel_noAF (Livesey and Marsh 2025)
- configuration of: BayesDel (addAF) [ProteinGym 144fe22 clinical summary]
- configuration of: BayesDel (noAF) [ProteinGym 144fe22 clinical summary]
- configuration of: BayesDel (Pejaver et al. 2022 calibration)