ClinVar variants with aggregate VCV classification Pathogenic or Likely Pathogenic versus Benign or Likely Benign, excluding VUS, chrY, mitochondrial variants and indels over 10 bp, annotated with Ensembl VEP.
14 evaluations · 14 results. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
Source checking is not independent reproduction. Release 2026-11-02-a7f03c9e55a5.
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.
Release 2026-11-02-a7f03c9e55a5 · Evidence verified: Not verified
Exact outcomes, predictions, identifiers and evaluator are connected.
Missing or unresolved evidence
Verified: Not verified
Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.
Missing or unresolved evidence
Verified: Not verified
A pinned recipe describes the inputs, environment and resource requirements.
Missing or unresolved evidence
Verified: Not verified
Separate data and exposure records support an independent test.
Missing or unresolved evidence
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.
No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.
A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.
Source checking verifies the cited claim or transcription. It does not establish independent reproduction.
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.
6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Population Fig. 2B: ClinVar SNVs +151026/-997941; ClinVar indels +106995/-44767 (positives/negatives as printed in the panel headers) Context-only references | AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Methods 'ClinVar Pathogenicity Classification' (page 27); 'Overlap Filtering during Evaluation' (page 22); Fig. 2B panel headers Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. |
| Source location Methods 'ClinVar Pathogenicity Classification' (page 27); 'Overlap Filtering during Evaluation' (page 22); Fig. 2B panel headers Context-only references | AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Methods 'ClinVar Pathogenicity Classification' (page 27); 'Overlap Filtering during Evaluation' (page 22); Fig. 2B panel headers Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. |
| Split Test set: benchmark variants at positions not overlapping any AVI training or validation variant; the same filter is applied to every method. Context-only references | AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Methods 'ClinVar Pathogenicity Classification' (page 27); 'Overlap Filtering during Evaluation' (page 22); Fig. 2B panel headers Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. |
| Version ClinVar release 2025-06-15 Context-only references | AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Methods 'ClinVar Pathogenicity Classification' (page 27); 'Overlap Filtering during Evaluation' (page 22); Fig. 2B panel headers Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. |
| Description ClinVar variants with aggregate VCV classification Pathogenic or Likely Pathogenic versus Benign or Likely Benign, excluding VUS, chrY, mitochondrial variants and indels over 10 bp, annotated with Ensembl VEP. Context-only references | AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Methods 'ClinVar Pathogenicity Classification' (page 27); 'Overlap Filtering during Evaluation' (page 22); Fig. 2B panel headers Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. |
| Name ClinVar 2025-06-15 pathogenic versus benign variants, AVI evaluation set Context-only references | AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Methods 'ClinVar Pathogenicity Classification' (page 27); 'Overlap Filtering during Evaluation' (page 22); Fig. 2B panel headers Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. |
Release 2026-11-02-a7f03c9e55a5 · Record review: source checked
Stable ID: ag-atlas-20261019-data-clinvar-20250615