clinvar-querier

Solid

ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

AI & Automation 814 stars 53 forks Updated today MIT

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Quality Score: 93/100

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100
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Description 5%
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Skill Content

# 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)

Details

Author
a5c-ai
Repository
a5c-ai/babysitter
Created
4 months ago
Last Updated
today
Language
JavaScript
License
MIT

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