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Detection and analysis of short variants in mitochondrial DNA

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mitopy

mitopy is a command-line toolkit to perform identification and analysis of short mitochondrial variants. The mitochondrial variant detection is based on GATK best practices. Functionality for analysis of detected variants includes annotation, visualization, haplogroup identification and coverage calculation. For further information, please see documentation.

Quickstart

Prerequisities

The preferred way of running mitopy is through Docker. Please install Docker and Docker Compose on your system.

Run mitopy

Clone the repository:

git clone https://github.com/bendda/mitopy

Start the Docker container in interactive mode:

cd mitopy
docker compose run mitopy

Run the whole mitopy pipeline on example data:

mitopy run-pipeline example_data/NA12878_20k_hg38.bam -o example_data/outputs

To run the analysis on your files, please add them to data/ directory.


NOTE

It is important to add custom data required for analysis to data/ directory, since the data/ directory is mounted to Docker container (for further information, see Docker Volumes).


Run tests

To run a suite of mitopy tests, run following command (in the cloned mitopy directory):

docker compose run test

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Detection and analysis of short variants in mitochondrial DNA

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