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clinvar-querier

Research
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ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

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How to use this skill

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Source SKILL.md: https://github.com/a5c-ai/babysitter/blob/HEAD/library/specializations/domains/science/bioinformatics/skills/clinvar-querier/SKILL.md

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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)