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seppinho committed Dec 29, 2024
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78 changes: 6 additions & 72 deletions README.md
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Expand Up @@ -7,6 +7,12 @@ mtDNA-Server 2 is a Nextflow DSL2 pipeline to accurately detect heteroplasmic an

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

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

## 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.

## Version History

Release [v2.1.15](../../releases/tag/v2.1.15) - Add option for min mean coverage
Expand All @@ -21,76 +27,4 @@ Release [v2.1.11](../../releases/tag/v2.1.11) - Improve QC command, update to la

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.

### Quick Start

1. Install [Nextflow](https://www.nextflow.io/docs/latest/getstarted.html#installation) (>=22.10.4)

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>
```

### 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 |

## 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
```

## 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.


## Contact

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/)

![](https://avatars2.githubusercontent.com/u/1942824?s=30) [Sebastian Schoenherr](mailto:[email protected]) ([@seppinho](https://twitter.com/seppinho))

![](https://avatars2.githubusercontent.com/u/1931865?s=30) [Hansi Weissensteiner](mailto:[email protected]) ([@whansi](https://twitter.com/whansi))

![](https://avatars2.githubusercontent.com/u/210220?s=30) [Lukas Forer](mailto:[email protected]) ([@lukfor](https://twitter.com/lukfor))

## License

MIT Licensed.
4 changes: 2 additions & 2 deletions cloudgene.yaml
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Expand Up @@ -126,7 +126,7 @@ workflow:
- id: min_mean_coverage
description: Minimal Mean Coverage
type: number
visible: false
visible: true
value: 50

- id: baseQ
Expand Down Expand Up @@ -159,4 +159,4 @@ workflow:
description: Auxiliary Files
type: local-folder
download: true
temp: false
temp: false
10 changes: 5 additions & 5 deletions workflows/mtdna_server_2.nf
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Expand Up @@ -235,7 +235,7 @@ workflow.onComplete {
to "${params.user.email}"
from "${params.service.email}"
subject "[${params.service.name}] Job ${params.project} failed."
body "Hi ${params.user.name}, your job failed :(. Logs can be accessed at ${params.service.url}/index.html#!jobs/${params.project}"
body "Dear ${params.user.name}, your job has ${statusMessage}. More details can be found at the following link: ${params.service.url}/index.html#!jobs/${params.project}"

}
}
Expand All @@ -250,11 +250,11 @@ workflow.onComplete {
sendMail{
to "${params.user.email}"
from "${params.service.email}"
subject "[${params.service.name}] Job ${params.project} is complete."
body "Hi ${params.user.name}, your job completed successfully and can be accessed at ${params.service.url}/index.html#!jobs/${params.project}"
subject "[${params.service.name}] Job ${params.project} is complete"
body "Dear ${params.user.name}, \n your mtDNA-Server 2 job has finished succesfully.\n You can download the results from the following link: ${params.service.url}/index.html#!jobs/${params.project}"
}
report.ok("Sent email notification to <b>${params.user.email}</b>")
println "::message:: " + "Sent email notification to <b>${params.user.email}</b>"
} else {

}
}
}

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