ReddRadar
Agent skill
clinvar-querier
ClinVar database query skill for clinical variant interpretation and pathogenicity lookup
Install this agent skill to your Project
npx add-skill https://github.com/a5c-ai/babysitter/tree/main/library/specializations/domains/science/bioinformatics/skills/clinvar-querier
Metadata
Additional technical details for this skill
- tags
-
clinical-genomics clinvar pathogenicity database
- version
- 1.0
- category
- bioinformatics
SKILL.md
ClinVar Querier Skill
Purpose
Enable ClinVar database queries for clinical variant interpretation and pathogenicity lookup.
Capabilities
- Variant significance lookup
- Submission history retrieval
- Condition association queries
- Evidence level assessment
- Batch variant queries
- VCF annotation integration
Usage Guidelines
- Query variants with standard nomenclature
- Review submission history for context
- Consider evidence levels in interpretation
- Batch query for efficiency
- Integrate with VCF annotation
- Document ClinVar version dates
Dependencies
- ClinVar API
- VarSome API
- OMIM
Process Integration
- Clinical Variant Interpretation (clinical-variant-interpretation)
- Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)
- Tumor Molecular Profiling (tumor-molecular-profiling)
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