rewirebio.iobenchmarks
Configuration

PhyloGPN, official example code (Lu et al. 2025)

PhyloGPN variant scores computed with the official repository's basic example code and a 481 bp context.

14 evaluations · 14 results1 open disagreement between studies involves its model

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

14 evaluations · 14 results. Different protocols are not a single leaderboard.

Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)

Sorted by AUROC (ClinVar pathogenic vs benign SNVs, 3' UTR) (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 configurationProtocol and datasetAUROC (ClinVar pathogenic vs benign SNVs, 3' UTR)AUROC (ClinVar pathogenic vs benign SNVs, 5' UTR)AUROC (ClinVar pathogenic vs benign SNVs, All variants)AUROC (ClinVar pathogenic vs benign SNVs, Intron (Non-splice))AUROC (ClinVar pathogenic vs benign SNVs, Missense & 3'UTR)AUROC (ClinVar pathogenic vs benign SNVs, Missense & Intron (Non-splice))AUROC (ClinVar pathogenic vs benign SNVs, Missense)AUROC (ClinVar pathogenic vs benign SNVs, Noncoding)AUROC (ClinVar pathogenic vs benign SNVs, RNA gene)AUROC (ClinVar pathogenic vs benign SNVs, Splice)AUROC (ClinVar pathogenic vs benign SNVs, Start loss)AUROC (ClinVar pathogenic vs benign SNVs, Stop gain)AUROC (ClinVar pathogenic vs benign SNVs, Stop loss)AUROC (ClinVar pathogenic vs benign SNVs, Synonymous)
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: 3' UTR (Figure 1)0.765Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: All variants (Figure 1)Not reportedNot reported0.915Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Intron (Non-splice) (Figure 1)Not reportedNot reportedNot reported0.846Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Missense & Intron (Non-splice) (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reported0.689Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Missense & 3'UTR (Figure 1)Not reportedNot reportedNot reportedNot reported0.729Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Missense (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reported0.799Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Noncoding (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.951Not reportedNot reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: RNA gene (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.476Not reportedNot reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Splice (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.722Not reportedNot reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Start loss (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.583Not reportedNot reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Stop gain (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.677Not reportedNot reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Stop loss (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.695Not reported
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: Synonymous (Figure 1)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.806
PhyloGPN, official example code (Lu et al. 2025)EvaluationLu et al. 2025 ClinVar benchmark: 5' UTR (Figure 1)Not reported0.601Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
All 14 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: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: All variants (Figure 1)
0.915 AUROC (ClinVar pathogenic vs benign SNVs, All variants)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar All variants SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 1, panel 1 'All variants (N=258,944, %P=30.59%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Intron (Non-splice) (Figure 1)
0.846 AUROC (ClinVar pathogenic vs benign SNVs, Intron (Non-splice))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Intron (Non-splice) SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 1, panel 3 'Intron (Non-splice) (N=88,049, %P=1.60%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Missense & Intron (Non-splice) (Figure 1)
0.689 AUROC (ClinVar pathogenic vs benign SNVs, Missense & Intron (Non-splice))
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Missense & Intron (Non-splice) SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 3, panel 2 'Missense & Intron (Non-splice) (N=255, %P=17.91%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Missense & 3'UTR (Figure 1)
0.729 AUROC (ClinVar pathogenic vs benign SNVs, Missense & 3'UTR)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Missense & 3'UTR SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 3, panel 3 'Missense & 3'UTR (N=117, %P=40.97%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Missense (Figure 1)
0.799 AUROC (ClinVar pathogenic vs benign SNVs, Missense)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Missense SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 3, panel 1 'Missense (N=50,820, %P=40.09%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Noncoding (Figure 1)
0.951 AUROC (ClinVar pathogenic vs benign SNVs, Noncoding)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Noncoding SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 1, panel 2 'Noncoding (N=118,256, %P=10.69%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: RNA gene (Figure 1)
0.476 AUROC (ClinVar pathogenic vs benign SNVs, RNA gene)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar RNA gene SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 2, panel 2 'RNA gene (N=131, %P=25.95%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Splice (Figure 1)
0.722 AUROC (ClinVar pathogenic vs benign SNVs, Splice)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Splice SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 1, panel 4 'Splice (N=11,042, %P=99.30%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Start loss (Figure 1)
0.583 AUROC (ClinVar pathogenic vs benign SNVs, Start loss)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Start loss SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 2, panel 5 'Start loss (N=847, %P=97.53%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Stop gain (Figure 1)
0.677 AUROC (ClinVar pathogenic vs benign SNVs, Stop gain)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Stop gain SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 3, panel 4 'Stop gain (N=42,408, %P=98.13%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Stop loss (Figure 1)
0.695 AUROC (ClinVar pathogenic vs benign SNVs, Stop loss)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Stop loss SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 2, panel 4 'Stop loss (N=94, %P=75.53%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: Synonymous (Figure 1)
0.806 AUROC (ClinVar pathogenic vs benign SNVs, Synonymous)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar Synonymous SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 2, panel 3 'Synonymous (N=42,139, %P=0.66%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: 3' UTR (Figure 1)
0.765 AUROC (ClinVar pathogenic vs benign SNVs, 3' UTR)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar 3' UTR SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 1, panel 5 '3' UTR (N=11,851, %P=0.21%)', row 'PhyloGPN', bar label
Configuration: PhyloGPN, official example code (Lu et al. 2025)Protocol: ClinVar pathogenic versus benign SNVs within variant type, AUROC (Lu et al. 2025)
Dataset subset: Lu et al. 2025 ClinVar benchmark: 5' UTR (Figure 1)
0.601 AUROC (ClinVar pathogenic vs benign SNVs, 5' UTR)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

PhyloGPN on ClinVar 5' UTR SNVs (Lu et al. 2025 Figure 1)

lu-hetero-20261019-protocol-clinvar-variant-type-auroc

Aggregation: Not reported

Genomic heterogeneity inflates the performance of variant pathogenicity predictions (Lu, Liu, Lin and Brandes, bioRxiv 2025, v2) · Figure 1 (page 8), column 2, panel 1 '5' UTR (N=2,471, %P=2.38%)', row 'PhyloGPN', bar label

Source checking is not independent reproduction. Release 2026-11-02-a7f03c9e55a5.

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Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

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Technical metadata and extraction receipts

Stable ID: lu-hetero-20261019-config-phylogpn-official-example

areas
dna-genomes
contexts
clinical_research
method types
foundation_model
reported name
PhyloGPN
parameters
songlab-cal/gpn examples/phylogpn/basic_example.ipynb; 481 bp context (Table 1); score multiplied by -1.
source locator
Methods 'PhyloGPN' (page 14); Table 1
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