rewirebio.iobenchmarks
Protocol

Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)

Zero-shot classification of pathogenic/likely pathogenic versus benign/likely benign variants in the ClinVar 'Both' (coding and noncoding) SNVs stratum, AUROC and AUPRC.

12 evaluations · 24 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.

12 recorded evaluations, 24 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

12 evaluations · 24 results. Different protocols are not a single leaderboard.

Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1) · Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)

Sorted by AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs) (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 24 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: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.984 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

CADD on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J575, row 575: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.988 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

CADD on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I575, row 575: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 1 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.577 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 1 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J585, row 585: Model 'Evo 1', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 1 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.607 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 1 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I585, row 585: Model 'Evo 1', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 40B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.949 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 40B base on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J577, row 577: Model 'Evo 2 40B base', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 40B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.97 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 40B base on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I577, row 577: Model 'Evo 2 40B base', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 40B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.95 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 40B on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J576, row 576: Model 'Evo 2 40B', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 40B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.97 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 40B on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I576, row 576: Model 'Evo 2 40B', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 7B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.944 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 7B base on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J579, row 579: Model 'Evo 2 7B base', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 7B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.96 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 7B base on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I579, row 579: Model 'Evo 2 7B base', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 7B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.949 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 7B on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J578, row 578: Model 'Evo 2 7B', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 7B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.964 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

Evo 2 7B on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I578, row 578: Model 'Evo 2 7B', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: GPN-MSA (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.944 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

GPN-MSA on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J580, row 580: Model 'GPN-MSA', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: GPN-MSA (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.959 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

GPN-MSA on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I580, row 580: Model 'GPN-MSA', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: NT (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.426 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

NT on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J586, row 586: Model 'NT', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: NT (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.506 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

NT on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I586, row 586: Model 'NT', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 100 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.886 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 100 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J581, row 581: Model 'PhyloP 100', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: PhyloP 100 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.919 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 100 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I581, row 581: Model 'PhyloP 100', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 241 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.875 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 241 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J583, row 583: Model 'PhyloP 241', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: PhyloP 241 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.917 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 241 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I583, row 583: Model 'PhyloP 241', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 447 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.88 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 447 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J582, row 582: Model 'PhyloP 447', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: PhyloP 447 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.917 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 447 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I582, row 582: Model 'PhyloP 447', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 470 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.87 AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 470 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J584, row 584: Model 'PhyloP 470', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: PhyloP 470 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.912 AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

PhyloP 470 on ClinVar 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I584, row 584: Model 'PhyloP 470', Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'

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

Methods and evaluation design

Procedure, tasks and evaluated configurations

Recorded evaluations

Each evaluation records what was tested and under which conditions.

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.

0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.

No execution recipe linked to this protocol. Recipe availability does not establish a completed evaluation.

Author-reported evaluations
12

Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.

Null control

Proposed control: requires review

Protocol-valid seeded random ranking; no fitting on assay labels

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Conventional reference

Proposed control: requires review

Established label-free reference with explicitly permitted sequence/MSA inputs

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

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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.

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Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
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Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

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Technical metadata and extraction receipts

Stable ID: gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-both-snv

areas
dna-genomes
contexts
research
protocol
Score each variant zero-shot (for Evo 2, the log-likelihood of the variant sequence minus that of the reference over an 8,192-bp genomic window around the variant) and compute AUROC and AUPRC for pathogenic/likely pathogenic versus benign/likely benign variants in the stratum Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV'.
version
As published, Nature 652 (2026), Supplementary Data 1
source locator
Supplementary Data 1 rows with Data 'ClinVar', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category ''; SI A.3.12 and A.3.13 (page 13)
limitations
Positives: 35953 pathogenic/likely pathogenic; negatives: 53173 benign/likely benign; total 89126 variants (Supplementary Data 1).; The 'Both' rows are larger than the sum of the coding and noncoding rows; the population is not explained in the source.; No split: every model scores the same variants zero-shot (SI A.3.12: 'For each benchmark, we score the same variants with all models').; Supervised comparators (AlphaMissense, CADD, SpliceAI, Pangolin) may have been trained on overlapping variants; training overlap is not reported.; No uncertainty is reported.
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