rewirebio.iobenchmarks
Dataset

ClinVar October 2024 release, filtered (Brixi et al. 2026)

ClinVar variants used by the Evo 2 authors: nuclear genome, review status of at least two stars, at most 64 bp of reference or alternate allele, variants of unknown significance removed, loci with matched transcript IDs in the GRCh38.p14 GTF.

Evaluation results

497 evaluations · 994 results. Different protocols are not a single leaderboard.

Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.977 AUPRC (zero-shot; ClinVar coding 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

AlphaMissense on ClinVar coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-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 J2, row 2: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.958 AUROC (zero-shot; ClinVar coding 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

AlphaMissense on ClinVar coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-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 I2, row 2: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, far from splice site classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.977 AUPRC (zero-shot; ClinVar coding SNVs, far from splice site)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

AlphaMissense on ClinVar coding SNVs, far from splice site (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-far-from-splice-site

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 J116, row 116: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Far from splice site', column 'AUPRC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, far from splice site classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.961 AUROC (zero-shot; ClinVar coding SNVs, far from splice site)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

AlphaMissense on ClinVar coding SNVs, far from splice site (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-far-from-splice-site

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 I116, row 116: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Far from splice site', column 'AUROC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, highly conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.981 AUPRC (zero-shot; ClinVar coding SNVs, highly 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

AlphaMissense on ClinVar coding SNVs, highly conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-highly-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 J305, row 305: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Highly conserved', column 'AUPRC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, highly conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.935 AUROC (zero-shot; ClinVar coding SNVs, highly 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

AlphaMissense on ClinVar coding SNVs, highly conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-highly-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 I305, row 305: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Highly conserved', column 'AUROC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, moderately conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.914 AUPRC (zero-shot; ClinVar coding SNVs, moderately 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

AlphaMissense on ClinVar coding SNVs, moderately conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-moderately-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 J245, row 245: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Moderately conserved', column 'AUPRC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, moderately conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.947 AUROC (zero-shot; ClinVar coding SNVs, moderately 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

AlphaMissense on ClinVar coding SNVs, moderately conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-moderately-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 I245, row 245: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Moderately conserved', column 'AUROC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, near splice site classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.98 AUPRC (zero-shot; ClinVar coding SNVs, near splice site)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

AlphaMissense on ClinVar coding SNVs, near splice site (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-near-splice-site

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 J135, row 135: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Near splice site', column 'AUPRC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, near splice site classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.931 AUROC (zero-shot; ClinVar coding SNVs, near splice site)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

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

AlphaMissense on ClinVar coding SNVs, near splice site (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-near-splice-site

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 I135, row 135: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Near splice site', column 'AUROC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.9 AUPRC (zero-shot; ClinVar coding 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

AlphaMissense on ClinVar coding SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-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 J365, row 365: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Not conserved', column 'AUPRC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.964 AUROC (zero-shot; ClinVar coding 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

AlphaMissense on ClinVar coding SNVs, not conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-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 I365, row 365: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Not conserved', column 'AUROC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, poorly conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.883 AUPRC (zero-shot; ClinVar coding SNVs, poorly 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

AlphaMissense on ClinVar coding SNVs, poorly conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-poorly-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 J425, row 425: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Poorly conserved', column 'AUPRC'
Configuration: AlphaMissense (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, poorly conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.957 AUROC (zero-shot; ClinVar coding SNVs, poorly 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

AlphaMissense on ClinVar coding SNVs, poorly conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-poorly-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 I425, row 425: Model 'AlphaMissense', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Poorly conserved', column 'AUROC'
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: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.952 AUPRC (zero-shot; ClinVar coding 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 coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-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 J3, row 3: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.927 AUROC (zero-shot; ClinVar coding 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 coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-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 I3, row 3: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, far from splice site classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.949 AUPRC (zero-shot; ClinVar coding SNVs, far from splice site)
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 coding SNVs, far from splice site (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-far-from-splice-site

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 J118, row 118: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Far from splice site', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, far from splice site classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.925 AUROC (zero-shot; ClinVar coding SNVs, far from splice site)
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 coding SNVs, far from splice site (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-far-from-splice-site

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 I118, row 118: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Far from splice site', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, highly conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.961 AUPRC (zero-shot; ClinVar coding SNVs, highly 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

CADD on ClinVar coding SNVs, highly conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-highly-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 J307, row 307: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Highly conserved', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, highly conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.883 AUROC (zero-shot; ClinVar coding SNVs, highly 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

CADD on ClinVar coding SNVs, highly conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-highly-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 I307, row 307: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Highly conserved', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, moderately conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.818 AUPRC (zero-shot; ClinVar coding SNVs, moderately 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

CADD on ClinVar coding SNVs, moderately conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-moderately-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 J246, row 246: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Moderately conserved', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, moderately conserved classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.905 AUROC (zero-shot; ClinVar coding SNVs, moderately 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

CADD on ClinVar coding SNVs, moderately conserved (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-moderately-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 I246, row 246: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Moderately conserved', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot ClinVar coding SNVs, near splice site classification (Evo 2 paper, Supplementary Data 1)
Dataset: ClinVar October 2024 release, filtered (Brixi et al. 2026)
0.977 AUPRC (zero-shot; ClinVar coding SNVs, near splice site)
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 coding SNVs, near splice site (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-clinvar-coding-snv-near-splice-site

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 J134, row 134: Model 'CADD', Data 'ClinVar', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category 'Near splice site', column 'AUPRC'

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

Research readiness

0 of 4 readiness checks met. These checks assess whether the evidence supports a reproducible investigation; a source-checked score alone does not meet them.

Readiness checks, gaps and artifacts

Release 2026-10-22-1b7cf027e4f6 · Evidence verified: Not verified

Evidence incomplete

Replay metrics

Exact outcomes, predictions, identifiers and evaluator are connected.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified

Verified: Not verified

Evidence incomplete

Investigate discrepancies

Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified
  • Sample annotations are recorded: not yet verified
  • Dependence between samples is assessed: not yet verified

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • A pinned run recipe exists: not yet verified
  • Compute requirements are estimated: not yet verified

Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Independent validation data exist: not yet verified
  • Overlap with training data is checked: not yet verified

Verified: Not verified

Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.

Artifacts and reproduction

No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.

Dataset and evaluation context

A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.

Evidence

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

18 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statementOriginal source and locationReview and provenance
Label semantics
Pathogenic/Likely pathogenic versus Benign/Likely benign
Context-only references
evo2: Journal full-text XML

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Retrieved page snapshot; no immutable publisher revision supplied
Retrieved: 2026-09-16T20:16:14.422554+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.label_semantics

Source artifact SHA-256: d043dbda49e023ef6b70e36e7ca7832bda6b7af6c5934368e8778a7f23cda8bd

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Label semantics
Pathogenic/Likely pathogenic versus Benign/Likely benign
Context-only references
Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026)

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature 652 (2026), published 2026-03-04; Supplementary Data 1 file 41586_2026_10176_MOESM3_ESM.xlsx
Retrieved: 2026-10-14T12:01:04Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.label_semantics

Source artifact SHA-256: 159f321775d634d9ed53b7a81c5cc1b5ef3d407880997e0f8c69bb8315a20a51

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Label semantics
Pathogenic/Likely pathogenic versus Benign/Likely benign
Context-only references
Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026)

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature 652 (2026), published 2026-03-04; Supplementary Information file 41586_2026_10176_MOESM1_ESM.pdf (73 pages)
Retrieved: 2026-10-14T12:01:04Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.label_semantics

Source artifact SHA-256: fe2a99108a4ce5c0f4ef1595605eaec709fa86204410d5b66c1384327eb7b925

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Source location
Supplementary Information A.3.13 (page 13)
Context-only references
evo2: Journal full-text XML

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Retrieved page snapshot; no immutable publisher revision supplied
Retrieved: 2026-09-16T20:16:14.422554+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: d043dbda49e023ef6b70e36e7ca7832bda6b7af6c5934368e8778a7f23cda8bd

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Source location
Supplementary Information A.3.13 (page 13)
Context-only references
Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026)

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature 652 (2026), published 2026-03-04; Supplementary Data 1 file 41586_2026_10176_MOESM3_ESM.xlsx
Retrieved: 2026-10-14T12:01:04Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: 159f321775d634d9ed53b7a81c5cc1b5ef3d407880997e0f8c69bb8315a20a51

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Source location
Supplementary Information A.3.13 (page 13)
Context-only references
Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026)

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature 652 (2026), published 2026-03-04; Supplementary Information file 41586_2026_10176_MOESM1_ESM.pdf (73 pages)
Retrieved: 2026-10-14T12:01:04Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: fe2a99108a4ce5c0f4ef1595605eaec709fa86204410d5b66c1384327eb7b925

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Split
No split; all filtered variants scored zero-shot
Context-only references
evo2: Journal full-text XML

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Retrieved page snapshot; no immutable publisher revision supplied
Retrieved: 2026-09-16T20:16:14.422554+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: d043dbda49e023ef6b70e36e7ca7832bda6b7af6c5934368e8778a7f23cda8bd

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Split
No split; all filtered variants scored zero-shot
Context-only references
Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026)

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature 652 (2026), published 2026-03-04; Supplementary Data 1 file 41586_2026_10176_MOESM3_ESM.xlsx
Retrieved: 2026-10-14T12:01:04Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: 159f321775d634d9ed53b7a81c5cc1b5ef3d407880997e0f8c69bb8315a20a51

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Split
No split; all filtered variants scored zero-shot
Context-only references
Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026)

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature 652 (2026), published 2026-03-04; Supplementary Information file 41586_2026_10176_MOESM1_ESM.pdf (73 pages)
Retrieved: 2026-10-14T12:01:04Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: fe2a99108a4ce5c0f4ef1595605eaec709fa86204410d5b66c1384327eb7b925

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Version
ClinVar October 2024 release
Context-only references
evo2: Journal full-text XML

Original source ↗

Supplementary Information A.3.13 (page 13)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Retrieved page snapshot; no immutable publisher revision supplied
Retrieved: 2026-09-16T20:16:14.422554+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.version

Source artifact SHA-256: d043dbda49e023ef6b70e36e7ca7832bda6b7af6c5934368e8778a7f23cda8bd

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

How to read the evidence

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-guides-20261014-evo2-brixi2026-data-clinvar-2024-10

areas
dna-genomes
contexts
research
version
ClinVar October 2024 release
split
No split; all filtered variants scored zero-shot
label semantics
Pathogenic/Likely pathogenic versus Benign/Likely benign
source locator
Supplementary Information A.3.13 (page 13)
Related records

Suggest a correction