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Protocol

EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)

AUROC for pathogenic versus benign on the deconfounded ClinVar SNV benchmark, all consequence types pooled (Overall row).

8 evaluations · 8 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.

8 recorded evaluations, 8 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

View coverage and remaining gaps across all benchmarks

Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

8 evaluations · 8 results. Different protocols are not a single leaderboard.

Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c) · Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)

Sorted by AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row)) (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.

All 8 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: AlphaGenome all-folds composite score (Pearce et al. 2026)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.574 AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaGenome on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'AlphaGenome'
Configuration: AlphaMissense hg38, pre-computed (Pearce et al. 2026)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.972 AUROC (Deconfounded ClinVar SNVs, missense only (value plotted in the Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

AlphaMissense on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'AlphaMissense'
Configuration: CADD v1.7 PHRED, pre-computed (Pearce et al. 2026)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.963 AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD v1.7 on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'CADD v1.7'
Configuration: EVEE covariance probe on Evo 2 7B layer 27 (Pearce et al. 2026)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.977 AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo2 Covariance on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'Evo2 Covariance'
Configuration: Evo 2 7B loss-based zero-shot score (Pearce et al. 2026)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.929 AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo2 Loss on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'Evo2 Loss'
Configuration: Evo 2 7B mean-pooled embedding probe (Pearce et al. 2026)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.967 AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo2 Mean on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'Evo2 Mean'
Configuration: GPN-MSA hg38 scores, pre-computed (Pearce et al. 2026)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.952 AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

GPN-MSA on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'GPN-MSA'
Configuration: NTv3 cosine distance (Pearce et al. 2026 Figure 1b and 1c)Protocol: EVEE deconfounded ClinVar SNV pathogenicity AUROC (Pearce et al. 2026 Figure 1c)
Dataset: EVEE deconfounded ClinVar SNV benchmark (158,616 variants)
0.71 AUROC (Deconfounded ClinVar SNVs, all consequence types (Overall row))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

NTv3 on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

Aggregation: Not reported

Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4; EVEE manuscript repository: figures/figure1/fig1c_deconf_heatmap.pdf; EVEE manuscript repository: scripts/figure1/_heatmap_common.py · Figure 1c (page 3, raster; matched to repository figures/figure1/fig1c_deconf_heatmap.pdf text layer), row 'Overall (n=158,616, 27.8%P)', column 'NTv3'

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

Methods and evaluation design

Procedure, tasks and evaluated configurations

Recorded evaluations

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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.

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Author-reported evaluations
3
External evaluations
5

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Null control

Proposed control: requires review

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Conventional reference

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

Coverage is derived from release 2026-10-22-1b7cf027e4f6. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.

Run instructions

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Strengths, limitations and unresolved questions

Evidence

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Evidence table

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Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
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Sources and history

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

3 source records and release historyDownload this release (gzip)
Technical metadata and extraction receipts

Stable ID: gfm-guide-20261014-protocol-evee-deconfounded-snv-auroc

areas
dna-genomes
contexts
research
protocol
Each method's score on the 158,616 deconfounded ClinVar SNVs, AUROC for P/LP versus B/LB. Supervised probes use gene-holdout cross-validation; CADD, AlphaMissense, GPN-MSA and AlphaGenome use pre-computed or zero-shot scores.
version
bioRxiv v4 Figure 1c
metric
auroc
limitations
Developer-reported: the authors built EVEE and three of them co-authored Evo 2.; One value per method; no confidence interval is printed in Figure 1c.; AlphaMissense's Overall cell is its missense-only AUROC (see the source concern).; The NTv3 column is a zero-shot cosine distance, not the probe described in Methods (see the source concern).
source locator
Figure 1c (page 3); Methods 'Deconfounded benchmark' (page 9)
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