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Clinvar querier

Skill a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/clinvar-querier

ClinVar database query skill for clinical variant interpretation and pathogenicity lookupFrom its SKILL.md

Install
npx -y skills add a5c-ai/babysitter --skill clinvar-querier

Assembled from the repository path, not quoted from the project. Check it against their README if it does not work.

SKILL.md

1.5 KB, 171 tokens by cl100k_base, as published. Nobody here has run it

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)

What ships with it

Read from the repository

Just SKILL.md. No reference files, no scripts.

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