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svTyper

A tool for structural variant (SV) analysis and visualization.

Description

svTyper is a comprehensive tool for analyzing and visualizing structural variants in genomic data. It provides detailed analysis of different types of structural variants including deletions, insertions, duplications, and translocations.

Prerequisites

Before installing svTyper, ensure you have the following tools installed:

Required Software

  • Python 3.7 or higher
  • R 4.0 or higher
  • BWA (Burrows-Wheeler Aligner)
  • SAMtools
  • BCFtools

Required R packages

  • ggplot2
  • dplyr
  • tidyr
  • gridExtra

Required Python packages

  • pandas
  • numpy
  • pysam
  • click
  • tabulate

Installation

# Clone the repository
git clone https://github.com/SemiQuant/svTyper.git

# Change to project directory
cd svTyper

# Install Python dependencies
pip install -r requirements.txt

# Install R dependencies
R -e "install.packages(c('ggplot2', 'dplyr', 'tidyr', 'gridExtra'))"

Usage

svTyper --input input.bam --output results/

Options

Option Description
--input Input BAM/CRAM/VCF file
--output Output directory
--threads Number of threads to use
--verbose Show detailed progress

Output

The tool generates:

  • Detailed SV analysis reports in tabular format
  • Visualization plots for SV distribution
  • Quality metrics for detected variants

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