genomics-sv-detection

Official

Detect structural variants in genomic data.

AuthorTianGzlab
Version1.0.0
Installs0

System Documentation

What problem does it solve?

This Skill automates the detection and classification of structural variants (SVs) like deletions, duplications, inversions, and translocations, which are often missed by standard variant callers.

Core Features & Use Cases

  • Comprehensive SV Calling: Integrates multiple specialized tools (Manta, Lumpy, Delly, Sniffles) for robust SV detection.
  • Variant Classification: Categorizes SVs by type (DEL, DUP, INV, TRA) and size (small, medium, large).
  • Use Case: Analyze whole-genome sequencing data to identify large deletions or translocations that may be associated with genetic disorders or cancer.

Quick Start

Run structural variant detection on the provided BAM file 'sample.bam' and save the results to the 'sv_output' directory.

Dependency Matrix

Required Modules

numpypandas

Components

scriptsreferences

💻 Claude Code Installation

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Please help me install this Skill:
Name: genomics-sv-detection
Download link: https://github.com/TianGzlab/OmicsClaw/archive/main.zip#genomics-sv-detection

Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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