rewirebio.iobenchmarks
Configuration

CADD (Evo 2 paper variant effect evaluations)

Configuration of CADD: CADD v1.7 variant effect scores.

26 evaluations · 52 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.

Evaluations and results

26 evaluations · 52 results. Different protocols are not a single leaderboard.

Sorted by AUPRC (zero-shot; BRCA1 '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.

Tested configurationProtocol and datasetAUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)AUPRC (zero-shot; BRCA1 coding SNVs)AUPRC (zero-shot; BRCA1 intronic SNVs)AUPRC (zero-shot; BRCA1 noncoding SNVs)AUPRC (zero-shot; BRCA1 splice region SNVs)AUPRC (zero-shot; BRCA2 'Both' (coding and noncoding) SNVs)AUPRC (zero-shot; BRCA2 coding SNVs)AUPRC (zero-shot; BRCA2 noncoding SNVs)AUPRC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)AUPRC (zero-shot; ClinVar coding SNVs, far from splice site)AUPRC (zero-shot; ClinVar coding SNVs, highly conserved)AUPRC (zero-shot; ClinVar coding SNVs, moderately conserved)AUPRC (zero-shot; ClinVar coding SNVs, near splice site)AUPRC (zero-shot; ClinVar coding SNVs, not conserved)AUPRC (zero-shot; ClinVar coding SNVs, poorly conserved)AUPRC (zero-shot; ClinVar coding SNVs)AUPRC (zero-shot; ClinVar low SpliceAI and Pangolin scores (both below 0.1) SNVs)AUPRC (zero-shot; ClinVar noncoding SNVs, far from splice site)AUPRC (zero-shot; ClinVar noncoding SNVs, highly conserved)AUPRC (zero-shot; ClinVar noncoding SNVs, intergenic)AUPRC (zero-shot; ClinVar noncoding SNVs, moderately conserved)AUPRC (zero-shot; ClinVar noncoding SNVs, near splice site)AUPRC (zero-shot; ClinVar noncoding SNVs, not conserved)AUPRC (zero-shot; ClinVar noncoding SNVs, poorly conserved)AUPRC (zero-shot; SpliceVarDB 'Both' (coding and noncoding) SNVs)AUPRC (zero-shot; SpliceVarDB exonic SNVs)AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)AUROC (zero-shot; BRCA1 coding SNVs)AUROC (zero-shot; BRCA1 intronic SNVs)AUROC (zero-shot; BRCA1 noncoding SNVs)AUROC (zero-shot; BRCA1 splice region SNVs)AUROC (zero-shot; BRCA2 'Both' (coding and noncoding) SNVs)AUROC (zero-shot; BRCA2 coding SNVs)AUROC (zero-shot; BRCA2 noncoding SNVs)AUROC (zero-shot; ClinVar 'Both' (coding and noncoding) SNVs)AUROC (zero-shot; ClinVar coding SNVs, far from splice site)AUROC (zero-shot; ClinVar coding SNVs, highly conserved)AUROC (zero-shot; ClinVar coding SNVs, moderately conserved)AUROC (zero-shot; ClinVar coding SNVs, near splice site)AUROC (zero-shot; ClinVar coding SNVs, not conserved)AUROC (zero-shot; ClinVar coding SNVs, poorly conserved)AUROC (zero-shot; ClinVar coding SNVs)AUROC (zero-shot; ClinVar low SpliceAI and Pangolin scores (both below 0.1) SNVs)AUROC (zero-shot; ClinVar noncoding SNVs, far from splice site)AUROC (zero-shot; ClinVar noncoding SNVs, highly conserved)AUROC (zero-shot; ClinVar noncoding SNVs, intergenic)AUROC (zero-shot; ClinVar noncoding SNVs, moderately conserved)AUROC (zero-shot; ClinVar noncoding SNVs, near splice site)AUROC (zero-shot; ClinVar noncoding SNVs, not conserved)AUROC (zero-shot; ClinVar noncoding SNVs, poorly conserved)AUROC (zero-shot; SpliceVarDB 'Both' (coding and noncoding) SNVs)AUROC (zero-shot; SpliceVarDB exonic SNVs)
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)0.73Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.876Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA1 coding SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)Not reported0.521Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.814Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA1 intronic SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)Not reportedNot reported0.362Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.813Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA1 noncoding SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)Not reportedNot reportedNot reported0.8Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.909Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA1 splice region SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reported0.856Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.89Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA2 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reported0.739Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.884Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA2 coding SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reported0.402Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.787Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot BRCA2 noncoding SNVs classification (Evo 2 paper, Supplementary Data 1), BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.867Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.924Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.984Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.988Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar coding SNVs classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.952Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.927Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar coding SNVs, far from splice site classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.949Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.925Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar coding SNVs, highly conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.961Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.883Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar coding SNVs, moderately conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.818Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.905Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar coding SNVs, near splice site classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.977Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.934Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar coding SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.623Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.88Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar coding SNVs, poorly conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.759Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.912Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar low SpliceAI and Pangolin scores (both below 0.1) SNVs classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.541Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.92Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar noncoding SNVs, far from splice site classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.506Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.873Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar noncoding SNVs, highly conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.998Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.983Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar noncoding SNVs, intergenic classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.848Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.913Not reportedNot reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar noncoding SNVs, moderately conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.79Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.923Not reportedNot reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar noncoding SNVs, near splice site classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.998Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.991Not reportedNot reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar noncoding SNVs, not conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.489Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.834Not reportedNot reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot ClinVar noncoding SNVs, poorly conserved classification (Evo 2 paper, Supplementary Data 1), ClinVar October 2024 release, filtered (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.607Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.908Not reportedNot reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot SpliceVarDB 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1), SpliceVarDB experimentally validated splice variants (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.874Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.832Not reported
CADD (Evo 2 paper variant effect evaluations)EvaluationZero-shot SpliceVarDB exonic SNVs classification (Evo 2 paper, Supplementary Data 1), SpliceVarDB experimentally validated splice variants (Brixi et al. 2026)Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.784Not reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reportedNot reported0.799
All 52 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 BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.73 AUPRC (zero-shot; BRCA1 '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 BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-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 J608, row 608: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.876 AUROC (zero-shot; BRCA1 '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 BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-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 I608, row 608: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.521 AUPRC (zero-shot; BRCA1 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 BRCA1 coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-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 J609, row 609: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.814 AUROC (zero-shot; BRCA1 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 BRCA1 coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-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 I609, row 609: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 intronic SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.362 AUPRC (zero-shot; BRCA1 intronic 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 BRCA1 intronic SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-intronic-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 J700, row 700: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Intronic', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 intronic SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.813 AUROC (zero-shot; BRCA1 intronic 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 BRCA1 intronic SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-intronic-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 I700, row 700: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Intronic', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 noncoding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.8 AUPRC (zero-shot; BRCA1 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 BRCA1 noncoding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-noncoding-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 J610, row 610: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Noncoding', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 noncoding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.909 AUROC (zero-shot; BRCA1 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 BRCA1 noncoding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-noncoding-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 I610, row 610: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Noncoding', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 splice region SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.856 AUPRC (zero-shot; BRCA1 splice region 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 BRCA1 splice region SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-splice-region-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 J685, row 685: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Splice region', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 splice region SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.89 AUROC (zero-shot; BRCA1 splice region 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 BRCA1 splice region SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-splice-region-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 I685, row 685: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Splice region', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA2 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)
0.739 AUPRC (zero-shot; BRCA2 '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 BRCA2 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca2-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 J561, row 561: Model 'CADD', Data 'BRCA2', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA2 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)
0.884 AUROC (zero-shot; BRCA2 '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 BRCA2 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca2-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 I561, row 561: Model 'CADD', Data 'BRCA2', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA2 coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)
0.402 AUPRC (zero-shot; BRCA2 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 BRCA2 coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca2-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 J533, row 533: Model 'CADD', Data 'BRCA2', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA2 coding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)
0.787 AUROC (zero-shot; BRCA2 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 BRCA2 coding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca2-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 I533, row 533: Model 'CADD', Data 'BRCA2', Genomic_Feature 'Coding', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA2 noncoding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)
0.867 AUPRC (zero-shot; BRCA2 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 BRCA2 noncoding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca2-noncoding-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 J547, row 547: Model 'CADD', Data 'BRCA2', Genomic_Feature 'Noncoding', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA2 noncoding SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA2 SNVs with functional classifications, Huang et al. 2025 (Brixi et al. 2026)
0.924 AUROC (zero-shot; BRCA2 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 BRCA2 noncoding SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca2-noncoding-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 I547, row 547: Model 'CADD', Data 'BRCA2', Genomic_Feature 'Noncoding', Variant_Type 'SNV', Sub_category '', 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'

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Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

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Stable ID: gfm-guides-20261014-evo2-brixi2026-config-cadd

areas
dna-genomes
contexts
research
method types
supervised_machine_learning
reported name
CADD
foundation model eligible
false
parameters
Variant effect ensemble (reference 132 is the CADD v1.7 paper; the version used is not stated)
source locator
Supplementary Data 1 column 'Model' ('CADD'); SI A.3.12 (page 13)
missing metadata
access reuse: reason: unextracted; checkpoint revision: reason: unreported; version: reason: unreported; note: Checkpoint or release used for variant scoring not stated
provenance note
CADD as scored zero-shot by the Evo 2 authors on human variant effect benchmarks.
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