scientific-variant-effect-prediction
CommunityUnified variant pathogenicity scoring.
Authornahisaho
Version1.0.0
Installs0
System Documentation
What problem does it solve?
This skill provides a unified framework to predict and prioritize the pathogenic effects of genetic variants by integrating AlphaMissense, CADD, and SpliceAI, with Ensembl VEP linkage and variant filtering to support downstream interpretation.
Core Features & Use Cases
- Integrates AlphaMissense, CADD, and SpliceAI into a single reusable pipeline for variant pathogenicity assessment.
- Produces per-variant scores and a consensus label to prioritize variants for follow-up in WES/WGS analyses.
- Leverages ToolUniverse SMCP tools and Ensembl VEP integration for annotation and prioritization in clinical and research workflows.
Quick Start
Run the consensus variant-effect-prediction workflow on your variant list to obtain per-variant scores and a consensus pathogenicity label.
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-effect-prediction Download link: https://github.com/nahisaho/satori/archive/main.zip#scientific-variant-effect-prediction Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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