rare-disease-rnaseq
CommunityDetect expression outliers in blood RNA-seq for rare disease diagnostics.
AuthorMubasherMohammed
Version1.0.0
Installs0
System Documentation
What problem does it solve?
This Skill provides blood RNA-seq expression outlier detection, aiding in the diagnosis of rare diseases by identifying potential disease markers in RNA expression profiles.
Core Features & Use Cases
- Expression Outlier Detection: Identifies genes with unusual expression levels in blood RNA-seq data.
- Disease Gene Panel: Filters outliers against a curated list of haploinsufficient disease genes.
- Use Case: Ideal for diagnosing rare diseases in patients with undiagnosed conditions, especially when combined with WGS-negative or WGS-VUS data.
Quick Start
Run the rare-disease-rnaseq skill with the 'rdoutlier' command, providing a counts matrix, cases file, controls file, and disease panel.
Dependency Matrix
Required Modules
pandasnumpymatplotlib
Components
scripts
💻 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: rare-disease-rnaseq Download link: https://github.com/MubasherMohammed/opencode-BioInfo/archive/main.zip#rare-disease-rnaseq Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
Agent Skills Search Helper
Install a tiny helper to your Agent, search and equip skill from 620,000+ vetted skills library on demand.