bio-clinical-databases-variant-prioritization
OfficialPrioritize disease-causing variants with evidence.
Authorstellaromics
Version1.0.0
Installs0
System Documentation
What problem does it solve?
This skill helps researchers quickly prioritize disease-causing genetic variants from sequencing data by integrating pathogenicity, population frequency, and clinical evidence.
Core Features & Use Cases
- Multi-criteria prioritization using ClinVar, gnomAD, CADD, and REVEL scores.
- ACMG-style filtering and inheritance-based prioritization (AD/AR/XL) to rank and select candidate variants.
- Generate ranked variant lists and ready-to-interpret reports for clinical and research workflows.
Quick Start
Prioritize variants from my exome sequencing data using ClinVar, gnomAD, CADD, and REVEL annotations.
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: bio-clinical-databases-variant-prioritization Download link: https://github.com/stellaromics/fast-bioinfo/archive/main.zip#bio-clinical-databases-variant-prioritization Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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