Genomic Variant Interpretation
CommunityClinical genomic variant interpretation.
Education & Research#genomics#data-integration#pharmacogenomics#variant-interpretation#clinvar#gnomad#clinical-significance
Authorgitjfmd
Version1.0.0
Installs0
System Documentation
What problem does it solve?
Classify pathogenicity and clinical significance for genomic variants by aggregating ClinVar, gnomAD, and related data sources to provide standardized interpretations for individuals and gene panels.
Core Features & Use Cases
- Aggregates ClinVar, gnomAD, and literature to classify pathogenicity and interpret clinical relevance for single variants and small panels.
- Generates evidence-backed annotations suitable for diagnostic reporting and research workflows.
- Use Case: In a genetic testing workflow, interpret a newly identified variant to determine pathogenicity and inform clinical decisions.
Quick Start
Provide a variant identifier (e.g., rsID or ACMG-annotated variant) to receive a pathogenicity classification with clinical significance.
Dependency Matrix
Required Modules
None requiredComponents
Standard package💻 Claude Code Installation
Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.
Please help me install this Skill: Name: Genomic Variant Interpretation Download link: https://github.com/gitjfmd/open-medical-skills/archive/main.zip#genomic-variant-interpretation Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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