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AlphaMissense hg38, pre-computed (Pearce et al. 2026)

Evidence concern: excluded from comparisons

The column labelled 'NTv3' in Figure 1b and 1c is not the method the Methods describe. The manuscript repository's plotting code (scripts/figure1/_heatmap_common.py at e5e4a43) renames 'NTv3 cosine dist' to 'NTv3' and drops 'NTv3 subref probe', whereas Methods 'Baseline methods' describe NTv3 650M layer-11 embeddings with L2-regularised logistic regression under 5-fold gene-holdout cross-validation. Figure 1d's NTv3 column is the supervised subref probe. The SNV and deconfounded NTv3 values are recorded as a zero-shot embedding distance.Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 · Figure 1b and 1c, column 'NTv3' (page 3); Methods 'Baseline methods', NTv3 (page 8); repository scripts/figure1/_heatmap_common.py RENAME_MAP and DROP_METHODS

AlphaMissense's 'Overall' cell in Figure 1b and 1c is its missense AUROC. The plotting code blanks AlphaMissense outside missense and copies the Missense value into the Overall row (scripts/figure1/_heatmap_common.py, am_ov_mask), so it is computed on a different, missense-only population from the other methods' Overall cells.Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 · Figure 1b and 1c, row 'Overall', column 'AlphaMissense' (page 3); repository scripts/figure1/_heatmap_common.py prepare()

Pre-computed AlphaMissense hg38 genome-wide scores, missense variants on MANE Select canonical transcripts only.

1 evaluation · 1 result

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Tested configuration	Protocol and dataset	Finding	Evidence and details
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 Evidence concern: excluded from comparisons The column labelled 'NTv3' in Figure 1b and 1c is not the method the Methods describe. The manuscript repository's plotting code (scripts/figure1/_heatmap_common.py at e5e4a43) renames 'NTv3 cosine dist' to 'NTv3' and drops 'NTv3 subref probe', whereas Methods 'Baseline methods' describe NTv3 650M layer-11 embeddings with L2-regularised logistic regression under 5-fold gene-holdout cross-validation. Figure 1d's NTv3 column is the supervised subref probe. The SNV and deconfounded NTv3 values are recorded as a zero-shot embedding distance.Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 · Figure 1b and 1c, column 'NTv3' (page 3); Methods 'Baseline methods', NTv3 (page 8); repository scripts/figure1/_heatmap_common.py RENAME_MAP and DROP_METHODS AlphaMissense's 'Overall' cell in Figure 1b and 1c is its missense AUROC. The plotting code blanks AlphaMissense outside missense and copies the Missense value into the Overall row (scripts/figure1/_heatmap_common.py, am_ov_mask), so it is computed on a different, missense-only population from the other methods' Overall cells.Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 · Figure 1b and 1c, row 'Overall', column 'AlphaMissense' (page 3); repository scripts/figure1/_heatmap_common.py prepare() 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'

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Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 · Original source · bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11)

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Stable ID: gfm-guide-20261014-config-evee-alphamissense

areas: dna-genomes
contexts: research
method types: foundation_model; supervised_machine_learning
source locator: Methods 'Baseline methods' and 'Covariance probe' (page 8); Figure 1 column labels
reported name: AlphaMissense
missing metadata: version: reason: unreported; note: Database file version not named

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configuration of: AlphaMissense
system: AlphaMissense on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)

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