scientific-variant-interpretation
CommunityACMG-aligned genetic variant interpretation.
Authornahisaho
Version1.0.0
Installs0
System Documentation
What problem does it solve?
Clinically interpret genetic variants according to ACMG/AMP guidelines and synthesize multi-database evidence for pathogenicity, pharmacogenomics, and somatic variant interpretation.
Core Features & Use Cases
- ACMG/AMP guideline-compliant pathogenicity classification for germline and somatic variants.
- Pharmacogenomics (PGx) interpretation and drug-response predictions integrated with ClinVar, PharmGKB, and literature.
- End-to-end variant interpretation pipeline from annotation to ACMG classification, producing a standardized report.
Quick Start
Perform a variant interpretation by feeding HGVS notation or rsID for a variant; the system will annotate, aggregate population and functional data, evaluate clinical evidence, and generate a Variant Interpretation Report.
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: scientific-variant-interpretation Download link: https://github.com/nahisaho/satori/archive/main.zip#scientific-variant-interpretation Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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