jkfo002 / truvari

Structural variant toolkit for VCFs

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Toolkit for benchmarking, merging, and annotating Structural Variants

πŸ“š WIKI page has detailed documentation.
πŸ“ˆ See Updates on new versions.
πŸ“ Read our Papers (#1, #2) to learn more.

πŸ’» Installation

Truvari uses Python 3.6+ and can be installed with pip:

  python3 -m pip install Truvari 

For details and more installation options, see Installation on the wiki.

⏩ Quick Start

Each sub-command contains help documentation. Start with truvari -h to see available commands.

The current most common Truvari use case is for structural variation benchmarking:

  truvari bench -b base.vcf.gz -c comp.vcf.gz -o output_dir/

🧬 Truvari Commands

  • bench - Performance metrics from comparison of two VCFs
  • collapse - Collapse possibly redundant VCF entries
  • anno - Add SV annotations to a VCF
  • consistency - Consistency report between multiple VCFs
  • vcf2df - Turn a VCF into a pandas DataFrame
  • segment - Normalization of SVs into disjointed genomic regions
  • stratify - Count variants per-region in vcf
  • divide - Divide a VCF into independent shards
  • phab - Harmonize variant representations using MSA
  • refine - Automated bench result refinement with phab

πŸ”Ž More Information

All documentation about Truvari is on the WIKI. Additional information about using Truvari can be found in Discussions

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Structural variant toolkit for VCFs

License:MIT License


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