diff --git a/README.md b/README.md index cfec1d5..6d4edce 100644 --- a/README.md +++ b/README.md @@ -7,6 +7,17 @@ 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:sebastian.schoenherr@i-med.ac.at)] 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**. @@ -14,6 +25,10 @@ mtDNA-Server 2 is available as a **hosted web-service** at the Medical Universit 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. @@ -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 -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:sebastian.schoenherr@i-med.ac.at)] 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 | |----------------------|--------------|----------------| @@ -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