ClinGen curation skill. Gene-disease validity classification, variant pathogenicity assessment, dosage sensitivity, and clinical actionability curation using ClinGen resources. Use when working with gene-disease validity classification, variant pathogenicity assessment, dosage sensitivity.
ClinGen curation skill. Gene-disease validity classification, variant pathogenicity assessment, dosage sensitivity, and clinical actionability curation using ClinGen resources.
logs/process-log.jsonl.report.md: concise method, results, interpretation, and file inventory in the user's language.results/: structured outputs, metrics, model artifacts, or extracted findings.figures/: English-only charts, diagrams, or panels when visual output is needed.data/: processed or derived datasets when transformation occurs.External tools available via ToolUniverse MCP server. Falls back to Python
requests+ public REST APIs when MCP is unavailable.
| Source | Tool | Description |
|---|---|---|
| ClinGen | ClinGen_search_gene | ClinGen API |
| ClinGen | ClinGen_get_validity | ClinGen API |
report.md and logs/process-log.jsonl reference the generated artifacts.If any gate fails: identify the specific failing check, fix the issue, and re-validate before proceeding.
logs/process-log.jsonl is updated with execution trace