rewirebio.iobenchmarks
Protocol

Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)

Zero-shot classification of pathogenic/likely pathogenic versus benign/likely benign variants in the ClinVar coding non-SNVs, not conserved stratum, AUROC and AUPRC.

15 evaluations · 30 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.

15 recorded evaluations, 30 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

15 evaluations · 30 results. Different protocols are not a single leaderboard.

Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1) · Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)

Sorted by AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved) (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 30 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: CodonBERT 87M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.856 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

CodonBERT 87M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J404, row 404: Model 'CodonBERT 87M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: CodonBERT 87M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.734 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

CodonBERT 87M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I404, row 404: Model 'CodonBERT 87M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: DeCodon 200M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.959 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

DeCodon 200M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J398, row 398: Model 'DeCodon 200M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: DeCodon 200M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.927 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

DeCodon 200M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I398, row 398: Model 'DeCodon 200M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: EnCodon 620M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.894 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

EnCodon 620M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J399, row 399: Model 'EnCodon 620M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: EnCodon 620M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.796 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

EnCodon 620M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I399, row 399: Model 'EnCodon 620M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: ESM-1b (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.713 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

ESM-1b on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J412, row 412: Model 'ESM-1b', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: ESM-1b (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.512 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

ESM-1b on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I412, row 412: Model 'ESM-1b', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: ESM-2 650M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.758 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

ESM-2 650M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J406, row 406: Model 'ESM-2 650M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: ESM-2 650M (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.633 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

ESM-2 650M on ClinVar coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I406, row 406: Model 'ESM-2 650M', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: Evo 1 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.564 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J409, row 409: Model 'Evo 1', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: Evo 1 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.529 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I409, row 409: Model 'Evo 1', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: Evo 2 40B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.835 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J402, row 402: Model 'Evo 2 40B base', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: Evo 2 40B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.767 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I402, row 402: Model 'Evo 2 40B base', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: Evo 2 40B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.835 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J403, row 403: Model 'Evo 2 40B', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: Evo 2 40B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.757 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I403, row 403: Model 'Evo 2 40B', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: Evo 2 7B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.832 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J401, row 401: Model 'Evo 2 7B base', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: Evo 2 7B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.77 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I401, row 401: Model 'Evo 2 7B base', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: Evo 2 7B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.825 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J400, row 400: Model 'Evo 2 7B', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: Evo 2 7B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.771 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I400, row 400: Model 'Evo 2 7B', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: NT (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.577 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J410, row 410: Model 'NT', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: NT (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.52 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I410, row 410: Model 'NT', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: PhyloP 100 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.519 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 J405, row 405: Model 'PhyloP 100', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: PhyloP 100 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.667 AUROC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 I405, row 405: Model 'PhyloP 100', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: PhyloP 241 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding non-SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.583 AUPRC (zero-shot; ClinVar coding non-SNVs, not conserved)
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 coding non-SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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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 J411, row 411: Model 'PhyloP 241', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved', column 'AUPRC'

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Stable ID: gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-non-snv-not-conserved

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 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved'.
version
As published, Nature 652 (2026), Supplementary Data 1
source locator
Supplementary Data 1 rows with Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'non-SNV', Sub_category 'Not conserved'; SI A.3.12 and A.3.13 (page 13); Extended Data Fig. 4
limitations
Positives: 73 pathogenic/likely pathogenic; negatives: 49 benign/likely benign; total 122 variants (Supplementary Data 1).; Label 'Not conserved'; SI A.3.13 names its bins 'weakly conserved' (0 <= phyloP < 0.5) and 'accelerated evolution' (phyloP < 0); the mapping is not stated.; 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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