genomics-variant-calling

Official

Identify genetic variations in your data.

AuthorTianGzlab
Version1.0.0
Installs0

System Documentation

What problem does it solve?

This Skill automates the complex process of identifying genetic variations (SNVs, Indels) from genomic data, distinguishing true biological signals from technical noise.

Core Features & Use Cases

  • Variant Calling: Supports multiple leading callers like GATK HaplotypeCaller, Mutect2, and DeepVariant for both germline and somatic variants.
  • Quality Filtering: Implements VQSR or hard filtering to ensure high-quality variant calls.
  • Use Case: Analyze a whole-genome sequencing BAM file to identify all single nucleotide polymorphisms (SNPs) and insertions/deletions (Indels) present in the sample, preparing the data for downstream genomic analysis.

Quick Start

Call germline variants from the provided BAM file 'sample.bam' and save the results to the 'output_dir' directory.

Dependency Matrix

Required Modules

GATK 4.xsamtoolsbcftools

Components

scriptsreferences

💻 Claude Code Installation

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

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