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BayesDel (Pejaver et al. 2022 calibration)

BayesDel scores as calibrated by the ClinGen SVI Working Group in Pejaver et al. 2022.

2 evaluations · 17 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

2 evaluations · 17 results. Different protocols are not a single leaderboard.

Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)

In source order. Decimals are rounded for display; each value links to the printed value and its source.

Tested configurationProtocol and datasetEvidence strength score interval (BP4 3 points, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration (Pejaver et al. 2022))Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (BP4 Strong, ClinGen SVI calibration (Pejaver et al. 2022))Evidence strength score interval (BP4 Strong, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (BP4 Supporting, ClinGen SVI calibration (Pejaver et al. 2022))Evidence strength score interval (BP4 Supporting, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (BP4 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022))Evidence strength score interval (Indeterminate (0 points), ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (PP3 3 points, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (PP3 Moderate, ClinGen SVI calibration (Pejaver et al. 2022))Evidence strength score interval (PP3 Moderate, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (PP3 Strong, ClinGen SVI calibration (Pejaver et al. 2022))Evidence strength score interval (PP3 Strong, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (PP3 Supporting, ClinGen SVI calibration (Pejaver et al. 2022))Evidence strength score interval (PP3 Supporting, ClinGen SVI calibration, points scale (Bergquist et al. 2025))Evidence strength score interval (PP3 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022))
BayesDel (Pejaver et al. 2022 calibration)EvaluationPP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)≤ −0.520Not reported[−0.519, −0.360]Not reported-Not reported[−0.359, −0.180]Not reported[−0.179, 0.129][0.410, 0.499]Not reported[0.270, 0.409]Not reported≥ 0.5Not reported[0.130, 0.269]Not reported
BayesDel (Pejaver et al. 2022 calibration)EvaluationPP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)Not reported≤ −0.36Not reported–Not reported(−0.36, −0.18]Not reported–Not reportedNot reported[0.27, 0.50)Not reported≥0.5Not reported[0.13, 0.27)Not reported–
All 17 result rows with coverage, uncertainty and sources
Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[−0.179, 0.129] Evidence strength score interval (Indeterminate (0 points), ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column 'Indeterminate (0)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[−0.359, −0.180] Evidence strength score interval (BP4 Supporting, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column 'Supporting (−1)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[−0.519, −0.360] Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column 'Moderate (−2)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
≤ −0.520 Evidence strength score interval (BP4 3 points, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column '(−3)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
- Evidence strength score interval (BP4 Strong, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not applicable: Strength not reached

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column 'Strong (−4)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[0.130, 0.269] Evidence strength score interval (PP3 Supporting, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column 'Supporting (+1)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[0.270, 0.409] Evidence strength score interval (PP3 Moderate, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column 'Moderate (+2)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[0.410, 0.499] Evidence strength score interval (PP3 3 points, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column '(+3)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
≥ 0.5 Evidence strength score interval (PP3 Strong, ClinGen SVI calibration, points scale (Bergquist et al. 2025))
unitless · unknown

Uncertainty: Not yet extracted: The main text prints no bounds for the thresholds; Figure 1 shows one-sided 95% bootstrap bounds as curves. The Supplementary Material PDF was not retrieved (PMC returned an HTML page on 2026-10-14).

Coverage: Not reported scored / Not reported eligible

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

BayesDel: points-scale PP3/BP4 score intervals (Bergquist et al. 2025)

vep-uc-20261014-protocol-bergquist2025-point-intervals

Aggregation: Not reported

Bergquist et al. 2025, Genet Med 27:101402 (PMC author manuscript) · Table 1, row 'BayesDel', column 'Strong (+4)'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
≤ −0.36 Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Moderate'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
– Evidence strength score interval (BP4 Strong, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not applicable: Strength not reached

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Strong'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
(−0.36, −0.18] Evidence strength score interval (BP4 Supporting, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Supporting'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
– Evidence strength score interval (BP4 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not applicable: Strength not reached

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Very Strong'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[0.27, 0.50) Evidence strength score interval (PP3 Moderate, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Moderate'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
≥0.5 Evidence strength score interval (PP3 Strong, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Strong'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
[0.13, 0.27) Evidence strength score interval (PP3 Supporting, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Supporting'
Configuration: BayesDel (Pejaver et al. 2022 calibration)Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022)
– Evidence strength score interval (PP3 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022))
unitless · unknown

Uncertainty: Not applicable: Strength not reached

Coverage: Not reported scored / Not reported eligible

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

BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)

vep-uc-20261014-protocol-pejaver2022-intervals

Aggregation: Not reported

Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Very Strong'

Source checking is not independent reproduction. Release 2026-10-22-1b7cf027e4f6.

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Evidence

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Evidence table

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

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Technical metadata and extraction receipts

Stable ID: vep-uc-20261014-config-pejaver2022-bayesdel

areas
dna-genomes
contexts
clinical_research
method types
supervised_machine_learning
reported name
BayesDel
configuration type
paper_evaluation
foundation model eligible
false
version
BayesDel without minor allele frequency (scores generated by the authors; release not stated)
access reuse
Scores obtained by Pejaver et al. 2022 (Methods 'Tools'); calibration code at https://github.com/vpejaver/clingen-svi-comp_calibration
score training overlap
Variants in this tool's training set (and its constituents') were removed from the calibration data where available (Methods)
source locator
Methods 'Tools' and 'Data sets'; Table 2 row 'BayesDel'
review
reviewer: claude; reviewer note: Claude review agent; no human review claimed. Independent Claude (Opus 5.5) review agent, separate from the extraction agent that built this batch. Automated review only. Transcription, not reproduction.; reviewed at: 2026-10-14T16:00:00Z; artifact sha256: a78c7bcaacb0ccb72291264bbe7c1f9a16867b0c6207dcbb45c3c59a14af6b3b; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9748256/fullTextXML; method: source-hash-verification; ai-assisted-source-review; method note: Checked against the Methods, table captions and author lists of the pinned sources.; note: Checked; see the dated review for rulings on origin and carried-over rows.
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