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seppinho authored May 31, 2024
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Expand Up @@ -7,13 +7,28 @@ mtDNA-Server 2 is a Nextflow DSL2 pipeline to accurately detect heteroplasmic an

![image](docs/images/report.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 [v2.1.11](../../releases/tag/v2.1.11) - Improve QC command, update to latest mutserve v2.0.1.

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.

## 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

The web-service documentation can be accessed [here](https://mitoverse.readthedocs.io/mtdna-server/mtdna-server/).

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

Expand All @@ -31,32 +46,7 @@ To run mtDNA-Server 2 on your own data, create a [config file](tests/test_mitohp
nextflow run genepi/mtdna-server-2 -r v2.1.11 -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 [v2.1.11](../../releases/tag/v2.1.11) - Improve QC command, update to latest mutserve v2.0.1.

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
cd mtdna-server-2
docker build -t genepi/mtdna-server-2 . # don't ignore the dot
nextflow run main.nf -profile test,development
```

### Documentation
### Parameters
The following parameters can be set in the configuration file.
| Parameter | Default Value | Comment |
|----------------------|--------------|----------------|
Expand All @@ -72,6 +62,16 @@ The following parameters can be set in the configuration file.
| alignQ | 30 | Alignment quality threshold |
| output | null | Specific Output folder |

## Development
```
git clone https://github.com/genepi/mtdna-server-2
cd mtdna-server-2
docker build -t genepi/mtdna-server-2 . # don't ignore the dot
nextflow run main.nf -profile test,development
```




## Contact

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