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@@ -7,6 +7,12 @@ mtDNA-Server 2 is a Nextflow DSL2 pipeline to accurately detect heteroplasmic an | |
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![image](docs/images/report.png) | ||
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### Documentation | ||
The documentation can be accessed [here](https://mitoverse.readthedocs.io/mtdna-server/mtdna-server/). | ||
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## Citation | ||
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. | ||
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## Version History | ||
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Release [v2.1.15](../../releases/tag/v2.1.15) - Add option for min mean coverage | ||
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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. | ||
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### 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](https://github.com/genepi/mtdna-server-2/issues). | ||
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## 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**. | ||
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## Web Service | ||
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mtDNA-Server 2 is hosted as a **free** service on our [mitoverse](https://mitoverse.i-med.ac.at/) platform. | ||
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### Documentation | ||
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The documentation can be accessed [here](https://mitoverse.readthedocs.io/mtdna-server/mtdna-server/). | ||
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## Nextflow Pipeline | ||
To run mtDNA-Server 2 via Nextflow, please execute the following steps. | ||
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### Quick Start | ||
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1. Install [Nextflow](https://www.nextflow.io/docs/latest/getstarted.html#installation) (>=22.10.4) | ||
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2. Run the pipeline on our test dataset and select either Docker, Singluarity or Slurm. | ||
``` | ||
nextflow run genepi/mtdna-server-2 -r v2.X.XX -profile test,<docker,singularity,slurm> | ||
``` | ||
### Run Pipeline on own data | ||
To run mtDNA-Server 2 on your own data, create a [config file](tests/test_mitohpc_fusion.config) and run the following command: | ||
``` | ||
nextflow run genepi/mtdna-server-2 -r v2.X.XX -c <your-config-file> -profile <docker,singularity,slurm> | ||
``` | ||
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### Parameters | ||
The following parameters can be set in the configuration file. | ||
| Parameter | Default Value | Comment | | ||
|----------------------|--------------|----------------| | ||
| project | null | Project name (required) | | ||
| files | null | Input BAM files (required) | | ||
| mode | fusion | Mode of operation (mutserve,mutect2,fusion) | | ||
| detection_limit | 0.02 | Detection limit for heteroplasmic sites | | ||
| coverage_estimation | on | Coverage estimation enabled | | ||
| subsampling | off | Subsampling on/off | | ||
| subsampling_coverage | 2000 | Subsampling coverage | | ||
| mapQ | 20 | Mapping quality threshold | | ||
| baseQ | 20 | Base quality threshold | | ||
| alignQ | 30 | Alignment quality threshold | | ||
| min_mean_coverage | 50 | Min Mean coverage | | ||
| output | null | Specific Output folder | | ||
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## 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 | ||
``` | ||
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## 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. | ||
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## Contact | ||
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This software was developed at the [Institute of Genetic Epidemiology](https://genepi.i-med.ac.at/), [Medical University of Innsbruck](https://i-med.ac.at/) | ||
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![](https://avatars2.githubusercontent.com/u/1942824?s=30) [Sebastian Schoenherr](mailto:[email protected]) ([@seppinho](https://twitter.com/seppinho)) | ||
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![](https://avatars2.githubusercontent.com/u/1931865?s=30) [Hansi Weissensteiner](mailto:[email protected]) ([@whansi](https://twitter.com/whansi)) | ||
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![](https://avatars2.githubusercontent.com/u/210220?s=30) [Lukas Forer](mailto:[email protected]) ([@lukfor](https://twitter.com/lukfor)) | ||
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## License | ||
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MIT Licensed. |