ClinVar benign versus pathogenic noncoding SNVs.
12 evaluations · 12 results. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: AlphaGenome-K562 (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 93.2 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceAlphaGenome-K562 on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'AlphaGenome-K562', column 'clinvar-snv' (ρ) |
| Configuration: CADD v1.7 (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 84.6 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD v1.7 on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'CADD v1.7', column 'clinvar-snv' (ρ) |
| Configuration: CADD v1.7 (Position) (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 83.7 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD v1.7 (Position) on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'CADD v1.7 (Position)', column 'clinvar-snv' (ρ) |
| Configuration: GC-content (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 11.5 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceGC-content on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'GC-content', column 'clinvar-snv' (ρ) |
| Configuration: GPN-MSA (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 80.7 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceGPN-MSA on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'GPN-MSA', column 'clinvar-snv' (ρ) |
| Configuration: Naïve Conseq. Type (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 76.7 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceNaïve Conseq. Type on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'Naïve Conseq. Type', column 'clinvar-snv' (ρ) |
| Configuration: Pangolin (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 85.6 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcePangolin on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'Pangolin', column 'clinvar-snv' (ρ) |
| Configuration: PhyloGPN (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 67.6 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcePhyloGPN on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'PhyloGPN', column 'clinvar-snv' (ρ) |
| Configuration: phyloP-100way (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 81.5 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcephyloP-100way on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'phyloP-100way', column 'clinvar-snv' (ρ) |
| Configuration: phyloP-30way (evaluation mode not printed (Table 4 has no Eval. column), GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 66.1 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcephyloP-30way on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'phyloP-30way', column 'clinvar-snv' (ρ) |
| Configuration: Sei-Aggr. + Pangolin (zero-shot, GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 95.1 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceSei-Aggr. + Pangolin on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'Sei-Aggr. + Pangolin', column 'clinvar-snv' (ρ) |
| Configuration: Sei-Aggr. (zero-shot, GUANinE v1.1) | Protocol: GUANinE v1.1 clinvar-snv, Spearman rho x100 (Table 4) Dataset: GUANinE clinvar-snv test set | 50.9 Spearman (GUANinE v1.1 test set) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceSei-Aggr. on GUANinE clinvar-snv lit-genomics-20261011-guanine-protocol-clinvar-snv Aggregation: Not reported GUANinE v1.1 reveals complementarity of supervised and genomic language models · Table 4, row 'Sei-Aggr.', column 'clinvar-snv' (ρ) |
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6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Population Test set 12.0 K SNVs (Table 1); predominantly benign intronic and pathogenic splice-site variants Context-only references | GUANinE v1.1 reveals complementarity of supervised and genomic language models Table 1 Version: Bioinformatics 2026, btag427 (issue date 2026-08-01); PMC13501288 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Source location Table 1 Context-only references | GUANinE v1.1 reveals complementarity of supervised and genomic language models Table 1 Version: Bioinformatics 2026, btag427 (issue date 2026-08-01); PMC13501288 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Split Test set (Test22 split; Table 1) Context-only references | GUANinE v1.1 reveals complementarity of supervised and genomic language models Table 1 Version: Bioinformatics 2026, btag427 (issue date 2026-08-01); PMC13501288 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Version GUANinE v1.1 Context-only references | GUANinE v1.1 reveals complementarity of supervised and genomic language models Table 1 Version: Bioinformatics 2026, btag427 (issue date 2026-08-01); PMC13501288 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Description ClinVar benign versus pathogenic noncoding SNVs. Context-only references | GUANinE v1.1 reveals complementarity of supervised and genomic language models Table 1 Version: Bioinformatics 2026, btag427 (issue date 2026-08-01); PMC13501288 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Name GUANinE clinvar-snv test set Context-only references | GUANinE v1.1 reveals complementarity of supervised and genomic language models Table 1 Version: Bioinformatics 2026, btag427 (issue date 2026-08-01); PMC13501288 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
Stable ID: lit-genomics-20261011-guanine-data-clinvar-snv