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Szilveszter Juhos
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.github/CONTRIBUTING.md

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# CAW Contributing Guidelines
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# Sarek Contributing Guidelines
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Hi there! Many thanks for taking an interest in improving CAW.
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Hi there! Many thanks for taking an interest in improving Sarek.
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We try to manage the required tasks for CAW using GitHub issues, you probably came to this page when creating one. Please use the prefilled template to save time.
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We try to manage the required tasks for Sarek using GitHub issues, you probably came to this page when creating one. Please use the prefilled template to save time.
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However, don't be put off by this template - other more general issues and suggestions are welcome! Contributions to the code are even more welcome ;)
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> If you need help using CAW then the best place to go is the Gitter chatroom where you can ask us questions directly: https://gitter.im/SciLifeLab/CAW
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> If you need help using Sarek then the best place to go is the Gitter chatroom where you can ask us questions directly: https://gitter.im/SciLifeLab/Sarek
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## Contribution workflow
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If you'd like to write some code for CAW, the standard workflow
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If you'd like to write some code for Sarek, the standard workflow
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is as follows:
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1. Check that there isn't already an issue about your idea in the
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[CAW issues](https://github.com/SciLifeLab/CAW/issues) to avoid
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[Sarek issues](https://github.com/SciLifeLab/Sarek/issues) to avoid
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duplicating work.
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* Feel free to add a new issue here for the same reason.
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2. Fork the CAW repository to your GitHub account
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2. Fork the Sarek repository to your GitHub account
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3. Make the necessary changes / additions within your forked repository
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4. Submit a Pull Request against the master branch and wait for the code to be reviewed and merged.
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If you're not used to this workflow with git, you can start with some [basic docs from GitHub](https://help.github.com/articles/fork-a-repo/) or even their [excellent interactive tutorial](https://try.github.io/).
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For further information/help, please consult the [CAW documentation](https://github.com/SciLifeLab/CAW#documentation) and don't hesitate to get in touch on [Gitter](https://gitter.im/SciLifeLab/CAW) or contact us: maxime.garcia@scilifelab.se, szilveszter.juhos@scilifelab.se
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For further information/help, please consult the [Sarek documentation](https://github.com/SciLifeLab/Sarek#documentation) and don't hesitate to get in touch on [Gitter](https://gitter.im/SciLifeLab/Sarek) or contact us: maxime.garcia@scilifelab.se, szilveszter.juhos@scilifelab.se

.github/ISSUE_TEMPLATE.md

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<!--
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Hi there!
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Many thanks for creating a CAW issue.
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Many thanks for creating a Sarek issue.
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Most issues fall into two categories: either you're reporting a problem with CAW or you'd like a change/improvement.
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Most issues fall into two categories: either you're reporting a problem with Sarek or you'd like a change/improvement.
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To make sure that you include all of the information needed, please use the template below, you can delete what is not needed.
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@@ -35,9 +35,9 @@ or ideas how to implement the addition or change
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Providing context helps us coming up with a solution
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Include as many relevant details about the environment you experienced the bug in
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-->
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- **CAW `nextflow.log`:**
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- **Sarek `nextflow.log`:**
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<!-- Re-execute the command line that resulted in a bug with --verbose and -resume and join the .nextflow.log -->
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- [please drag and drop the `.nextflow.log` file that will help understand the error here]
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- **CAW `input.TSV`:**
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- **Sarek `input.TSV`:**
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<!-- Anonymize your TSV file if necessary and join it too -->
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- [please drag and drop the `TSV` file that will help reproduce or understand the error here]

.gitignore

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Annotation/
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data/chr17_testdata/
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Preprocessing/
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References/
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Reports/

README.md

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* Variant annotation
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* [SnpEff](http://snpeff.sourceforge.net/)
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* [VEP](https://www.ensembl.org/info/docs/tools/vep/index.html) (Variant Effect Predictor)
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5. **Reporting**
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5. **Reporting** - `runMultiQC.nf`
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* Reporting
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* [MultiQC](http://multiqc.info)
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annotate.nf

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if (annotateVCF == []) {
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Channel.empty().mix(
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Channel.fromPath("${params.outDir}/VariantCalling/HaplotypeCaller/*.vcf.gz")
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Channel.fromPath("${directoryMap.haplotypecaller}/*.vcf.gz")
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.flatten().map{vcf -> ['haplotypecaller',vcf]},
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Channel.fromPath("${params.outDir}/VariantCalling/Manta/*SV.vcf.gz")
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Channel.fromPath("${directoryMap.manta}/*SV.vcf.gz")
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.flatten().map{vcf -> ['manta',vcf]},
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Channel.fromPath("${params.outDir}/VariantCalling/MuTect1/*.vcf.gz")
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Channel.fromPath("${directoryMap.mutect1}/*.vcf.gz")
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.flatten().map{vcf -> ['mutect1',vcf]},
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Channel.fromPath("${params.outDir}/VariantCalling/MuTect2/*.vcf.gz")
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Channel.fromPath("${directoryMap.mutect2}/*.vcf.gz")
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.flatten().map{vcf -> ['mutect2',vcf]},
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Channel.fromPath("${params.outDir}/VariantCalling/Strelka/*{somatic,variants}*.vcf.gz")
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.flatten().map{vcf -> ['strelka',vcf]}
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Channel.fromPath("${directoryMap.strelka}/*{somatic,variants}*.vcf.gz")
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.flatten().map{vcf -> ['strelka',vcf]},
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Channel.fromPath("${directoryMap.strelkabp}/*{somatic,variants}*.vcf.gz")
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.flatten().map{vcf -> ['strelkabp',vcf]}
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).choice(vcfToAnnotate, vcfNotToAnnotate) {
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annotateTools == [] || (annotateTools != [] && it[0] in annotateTools) ? 0 : 1
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}
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--format vcf \
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--offline \
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--per_gene \
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--nearest symbol \
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--fork ${task.cpus} \
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--total_length \
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--vcf
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def defineDirectoryMap() {
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return [
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'bcftoolsStats' : 'Reports/BCFToolsStats',
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'snpeff' : 'Annotation/SnpEff',
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'vep' : 'Annotation/VEP',
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'merge' : 'Annotation/merged'
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]
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}
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def defineStepList() {
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return [
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'annotate'
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'haplotypecaller' : "${params.outDir}/VariantCalling/HaplotypeCaller",
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'manta' : "${params.outDir}/VariantCalling/Manta",
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'mutect1' : "${params.outDir}/VariantCalling/MuTect1",
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'mutect2' : "${params.outDir}/VariantCalling/MuTect2",
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'strelka' : "${params.outDir}/VariantCalling/Strelka",
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'strelkabp' : "${params.outDir}/VariantCalling/StrelkaBP",
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'bcftoolsStats' : "${params.outDir}/Reports/BCFToolsStats",
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'snpeff' : "${params.outDir}/Annotation/SnpEff",
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'vep' : "${params.outDir}/Annotation/VEP"
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// Display help message
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this.sarekMessage()
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log.info " Usage:"
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log.info " nextflow run SciLifeLab/Sarek --sample <file.tsv> [--step STEP] [--tools TOOL[,TOOL]] --genome <Genome>"
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log.info " nextflow run SciLifeLab/Sarek --sampleDir <Directory> [--step STEP] [--tools TOOL[,TOOL]] --genome <Genome>"
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log.info " nextflow run SciLifeLab/Sarek --test [--step STEP] [--tools TOOL[,TOOL]] --genome <Genome>"
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log.info " --step"
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log.info " Option to start workflow"
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log.info " Possible values are:"
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log.info " annotate (will annotate Variant Calling output."
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log.info " By default it will try to annotate all available vcfs."
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log.info " Use with --annotateTools or --annotateVCF to specify what to annotate"
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log.info " nextflow run annotate.nf --test [--step STEP] [--tools TOOL[,TOOL]] --genome <Genome>"
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log.info " --noReports"
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log.info " Disable QC tools and MultiQC to generate a HTML report"
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log.info " --tools"

buildContainers.nf

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// Display help message
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this.sarekMessage()
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log.info " Usage:"
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log.info " nextflow run SciLifeLab/Sarek/buildContainers.nf [--docker] [--push]"
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log.info " nextflow run buildContainers.nf [--docker] [--push]"
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log.info " [--containers <container1...>] [--singularity]"
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log.info " [--containerPath <path>]"
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log.info " [--tag <tag>] [--repository <repository>]"
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log.info " Example:"
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log.info " nextflow run SciLifeLab/Sarek/buildContainers.nf --docker --containers sarek"
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log.info " nextflow run buildContainers.nf --docker --containers sarek"
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log.info " --containers: Choose which containers to build"
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log.info " Default: all"
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log.info " Possible values:"

buildReferences.nf

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log.info " Usage:"
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log.info " nextflow run buildReferences.nf --refDir <pathToRefDir> --genome <genome>"
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log.info " nextflow run buildReferences.nf --download --genome smallGRCh37"
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log.info " nextflow run SciLifeLab/Sarek --test [--step STEP] [--tools TOOL[,TOOL]] --genome <Genome>"
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log.info " --download"
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log.info " Download reference files. (only with --genome smallGRCh37)"
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log.info " --refDir <Directoy>"
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log.info " Specify a directory containing reference files."
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log.info " --outDir <Directoy>"
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log.info " Specify an output directory"
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log.info " Default: \$PWD/References/"
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log.info " --genome <Genome>"
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log.info " Choose which genome to build references from"
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log.info " Possible values are:"

configuration/base.config

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sampleDir = '' // samples directory (for Germline only)
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singularity = false // Don't use singularity to build buildContainers.nf
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step = 'mapping' // Default step is mapping
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strelkaBP = false // Don't use Manta's candidate indels as input to Strelka
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tag = 'latest' // Default tag is latest, to be overwritten by --tag <version>
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test = false // Not testing by default
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tools = '' // List of tools to use

configuration/containers.config

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$RunSingleStrelka.container = "${params.repository}/sarek:${params.tag}"
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$RunSnpeff.container = {params.genome == 'GRCh38' ? "${params.repository}/snpeffgrch38:${params.tag}" : "${params.repository}/snpeffgrch37:${params.tag}"}
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$RunStrelka.container = "${params.repository}/sarek:${params.tag}"
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$RunStrelkaBP.container = "${params.repository}/sarek:${params.tag}"
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$RunVEP.container = {params.genome == 'GRCh38' ? "${params.repository}/vepgrch38:${params.tag}" : "${params.repository}/vepgrch37:${params.tag}"}
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}

configuration/singularity-path.config

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$RunSingleStrelka.container = "${params.containerPath}/sarek-${params.tag}.img"
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$RunSnpeff.container = {params.genome == 'GRCh38' ? "${params.containerPath}/snpeffgrch38-${params.tag}.img" : "${params.containerPath}/snpeffgrch37-${params.tag}.img"}
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$RunStrelka.container = "${params.containerPath}/sarek-${params.tag}.img"
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$RunStrelkaBP.container = "${params.containerPath}/sarek-${params.tag}.img"
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$RunVEP.container = {params.genome == 'GRCh38' ? "${params.containerPath}/vepgrch38-${params.tag}.img" : "${params.containerPath}/vepgrch37-${params.tag}.img"}
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}

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