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seppinho authored May 29, 2024
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[![mtdna-server-2](https://github.com/genepi/mtdna-server-2/actions/workflows/run-tests.yml/badge.svg)](https://github.com/genepi/mtdna-server-2/actions/workflows/run-tests.yml)
[![nf-test](https://img.shields.io/badge/tested_with-nf--test-337ab7.svg)](https://github.com/askimed/nf-test)

mtDNA-Server 2 is a Nextflow DSL2 pipeline to accurately detect heteroplasmic and homoplasmic variants in mitochondrial (mtDNA) genomes.

It supports different variant callers and is able to call insertions, deletions (INDELs) and single nucleotide variants (SNVs). Furthmore it includes several modules for (a) quality control and input validation (b) haplogroup classification and contamination detection, (c) minimal VAF estimation based on the coverage to minimize false positives and (d) an interactive analytics dashboard.
mtDNA-Server 2 is a Nextflow DSL2 pipeline to accurately detect heteroplasmic and homoplasmic variants in mitochondrial (mtDNA) genomes, details can be found in our [NAR publication](https://doi.org/10.1093/nar/gkae296).

![image](docs/images/report.png)

mtDNA-Server 2 is available as a graphical web-service or a Nextflow pipeline for local execution.
## How to execute mtDNA-Server 2?
mtDNA-Server 2 is available as a **hosted web-service** at the Medical University of Innsbruck or as a **Nextflow pipeline**.

## Web Service

mtDNA-Server 2 is hosted as a **free** service on our [mitoverse](https://mitoverse.i-med.ac.at/) platform.

### Documentation

Documentation can be accessed [here](https://mitoverse.readthedocs.io/mtdna-server/mtdna-server/).

![image](docs/images/workflow.png)

We want to steadily improve mtDNA-Server 2. If your files are not working, please create a issue or contact [[Sebastian](mailto:[email protected])] directly.


### Version History
Release [v2.1.10](releases/tag/v2.1.10) - Improved mutect2 support: create missing RG tags, write inidividual reference sequence on the fly, support complex ref tags.

## Publication
Weissensteiner H*, Forer L*, Kronenberg F, Schönherr S. [mtDNA-Server 2: advancing mitochondrial DNA analysis through highly parallelized data processing and interactive analytics](https://doi.org/10.1093/nar/gkae296). Nucleic Acids Res. 2024 May 6:gkae296. doi: 10.1093/nar/gkae296. Epub ahead of print. PMID: 38709886.

## Local Execution
To run mtDNA-Server 2 locally, please execute the following steps.
## Nextflow Pipeline
To run mtDNA-Server 2 via Nextflow, please execute the following steps.

### Quick Start

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nextflow run genepi/mtdna-server-2 -r v2.1.10 -c <your-config-file> -profile docker
```

## Documentation

Documentation can be accessed [here](https://mitoverse.readthedocs.io/mtdna-server/mtdna-server/).

![image](docs/images/workflow.png)

## Publication
Weissensteiner H*, Forer L*, Kronenberg F, Schönherr S. [mtDNA-Server 2: advancing mitochondrial DNA analysis through highly parallelized data processing and interactive analytics](https://doi.org/10.1093/nar/gkae296). Nucleic Acids Res. 2024 May 6:gkae296. doi: 10.1093/nar/gkae296. Epub ahead of print. PMID: 38709886.

### Version History
Release [v2.1.10](../../releases/tag/v2.1.10) - Improved mutect2 support: create missing RG tags, write inidividual reference sequence on the fly, support complex ref tags.

## Are your files not working?
We want to steadily improve mtDNA-Server 2. If your files are not working, please feel free to create a issue or contact [[Sebastian](mailto:[email protected])] directly.

### Development
```
git clone https://github.com/genepi/mtdna-server-2
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