Add VCFtools

buildContainers.nf

@@ -192,6 +192,7 @@ def defineContainersList(){
     'snpeff',
     'snpeffgrch37',
     'snpeffgrch38',
+    'vcftools',
     'vepgrch37',
     'vepgrch38'
     ]
@@ -211,8 +212,8 @@ def helpMessage() {
   log.info "       Default: all"
   log.info "       Possible values:"
   log.info "         all, fastqc, freebayes, gatk, igvtools, multiqc, mutect1"
-  log.info "         picard, qualimap, r-base, runallelecount, sarek"
-  log.info "         snpeff, snpeffgrch37, snpeffgrch38, vepgrch37, vepgrch38"
+  log.info "         picard, qualimap, r-base, runallelecount, sarek, snpeff"
+  log.info "         snpeffgrch37, snpeffgrch38, vcftools, vepgrch37, vepgrch38"
   log.info "    --docker: Build containers using Docker"
   log.info "    --help"
   log.info "       you're reading it"

configuration/containers.config

@@ -39,5 +39,6 @@ process {
   $RunSnpeff.container = {params.genome == 'GRCh38' ? "${params.repository}/snpeffgrch38:${params.tag}" : "${params.repository}/snpeffgrch37:${params.tag}"}
   $RunStrelka.container               = "${params.repository}/sarek:${params.tag}"
   $RunStrelkaBP.container             = "${params.repository}/sarek:${params.tag}"
+  $RunVcftools.container              = "${params.repository}/vcftools:${params.tag}"
   $RunVEP.container = {params.genome == 'GRCh38' ? "${params.repository}/vepgrch38:${params.tag}" : "${params.repository}/vepgrch37:${params.tag}"}
 }

configuration/singularity-path.config

@@ -45,5 +45,6 @@ process {
   $RunSnpeff.container                = {params.genome == 'GRCh38' ? "${params.containerPath}/snpeffgrch38-${params.tag}.img" : "${params.containerPath}/snpeffgrch37-${params.tag}.img"}
   $RunStrelka.container               = "${params.containerPath}/sarek-${params.tag}.img"
   $RunStrelkaBP.container             = "${params.containerPath}/sarek-${params.tag}.img"
+  $RunVcftools.container              = "${params.containerPath}/vcftools-${params.tag}.img"
   $RunVEP.container                   = {params.genome == 'GRCh38' ? "${params.containerPath}/vepgrch38-${params.tag}.img" : "${params.containerPath}/vepgrch37-${params.tag}.img"}
 }

containers/vcftools/Dockerfile

@@ -0,0 +1,15 @@
+FROM nfcore/base:latest
+
+LABEL \
+  author="Maxime Garcia" \
+  description="vcftools image used in Sarek 2.0" \
+  maintainer="[email protected]"
+
+COPY environment.yml /
+
+RUN \
+  conda env create -f /environment.yml && \
+  conda clean -a
+
+  # Export PATH
+ENV PATH /opt/conda/envs/sarek-vcftools-2.0/bin:$PATH

containers/vcftools/environment.yml

@@ -0,0 +1,9 @@
+# You can use this file to create a conda environment:
+#   conda env create -f environment.yml
+name: sarek-vcftools-2.0
+channels:
+  - defaults
+  - conda-forge
+  - bioconda
+dependencies:
+- vcftools=0.1.15

doc/BUILD.md

@@ -27,6 +27,7 @@ nextflow run . [--docker] [--singularity] [--containerPath <path>] [--push] [--c
   - `snpeff` this container serves as a base for `snpeffgrch37` and `snpeffgrch38`
   - `snpeffgrch37`
   - `snpeffgrch38`
+  - `vcftools`
   - `vepgrch37`
   - `vepgrch38`
 

doc/CONTAINERS.md

@@ -9,6 +9,7 @@ For processing + germline variant calling + Reports:
  - [picard](#picard-)
  - [qualimap](#qualimap-)
  - [sarek](#sarek-)
+ - [vcftools](#vcftools-)
 
 For processing + somatic variant calling + Reports:
  - [fastqc](#fastqc-)
@@ -21,6 +22,7 @@ For processing + somatic variant calling + Reports:
  - [r-base](#r-base-)
  - [runallelecount](#runallelecount-)
  - [sarek](#sarek-)
+ - [vcftools](#vcftools-)
 
 For annotation for GRCh37, you will need:
  - [snpeffgrch37](#snpeffgrch37-)
@@ -104,6 +106,12 @@ A container named after the process is made for each process. If a container can
 - Contain **[snpEff][snpeff-link]** 4.3i
 - Contain GRCh38.86
 
+## vcftools [![vcftools-docker status][vcftools-docker-badge]][vcftools-docker-link]
+
+- Based on `nfcore/base:latest`
+- Contain **[vcftools][vcftools-link]** 0.1.15
+
+
 ## vepgrch37 [![vepgrch37-docker status][vepgrch37-docker-badge]][vepgrch37-docker-link]
 
 - Based on `willmclaren/ensembl-vep:release_90.6`
@@ -169,6 +177,9 @@ A container named after the process is made for each process. If a container can
 [snpeffgrch38-docker-badge]: https://img.shields.io/docker/automated/maxulysse/snpeffgrch38.svg
 [snpeffgrch38-docker-link]: https://hub.docker.com/r/maxulysse/snpeffgrch38
 [strelka-link]: https://github.com/Illumina/strelka
+[vcftools-docker-badge]: https://img.shields.io/docker/automated/maxulysse/vcftools.svg
+[vcftools-docker-link]: https://hub.docker.com/r/maxulysse/vcftools
+[vcftools-link]: https://vcftools.github.io/index.html
 [vep-docker-badge]: https://img.shields.io/docker/automated/maxulysse/vep.svg
 [vep-docker-link]: https://hub.docker.com/r/maxulysse/vep
 [vep-link]: https://github.com/Ensembl/ensembl-vep

doc/PROCESS.md

@@ -42,6 +42,7 @@ We divide them for the moment into 5 main steps:
 - RunSamtoolsStats - Run Samtools stats on recalibrated BAM files
 - RunBamQC - Run qualimap BamQC on recalibrated BAM files
 - RunBcftoolsStats - Run BCFTools stats on vcf files
+- RunVcftools - Run VCFTools on vcf files
 
 ## Annotation:
 

germlineVC.nf

@@ -399,8 +399,8 @@ process ConcatVCF {
     file(genomeIndex) from Channel.value(referenceMap.genomeIndex)
 
   output:
-    set variantCaller, idPatient, idSampleNormal, idSampleTumor, file("*.vcf.gz") into vcfConcatenated
-    file("*.vcf.gz.tbi") into vcfConcatenatedTbi
+    set variantCaller, idPatient, idSampleNormal, idSampleTumor, file("*.vcf.gz"), file("*.vcf.gz.tbi") into vcfConcatenated
+
 
   when: ( 'haplotypecaller' in tools || 'mutect1' in tools || 'mutect2' in tools || 'freebayes' in tools ) && !params.onlyQC
 
@@ -453,8 +453,9 @@ process ConcatVCF {
 
 if (params.verbose) vcfConcatenated = vcfConcatenated.view {
   "Variant Calling output:\n\
-  Tool  : ${it[0]}\tID    : ${it[1]}\tSample: [${it[3]}, ${it[2]}]\n\
-  File  : ${it[4].fileName}"
+  Tool  : ${it[0]}\tID    : ${it[1]}\tSample: ${it[2]}\n\
+  Files : ${it[4].fileName}\n\
+  Index : ${it[5].fileName}"
 }
 
 process RunSingleStrelka {
@@ -549,7 +550,11 @@ if (params.verbose) singleMantaOutput = singleMantaOutput.view {
   Index : ${it[4].fileName}"
 }
 
-vcfForBCFtools = Channel.empty().mix(
+vcfForQC = Channel.empty().mix(
+  vcfConcatenated.map {
+    variantcaller, idPatient, idSampleNormal, idSampleTumor, vcf, tbi ->
+    [variantcaller, vcf]
+  },
   singleStrelkaOutput.map {
     variantcaller, idPatient, idSample, vcf, tbi ->
     [variantcaller, vcf[1]]
@@ -559,6 +564,8 @@ vcfForBCFtools = Channel.empty().mix(
     [variantcaller, vcf[2]]
   })
 
+(vcfForBCFtools, vcfForVCFtools) = vcfForQC.into(2)
+
 process RunBcftoolsStats {
   tag {vcf}
 
@@ -585,6 +592,49 @@ if (params.verbose) bcfReport = bcfReport.view {
 
 bcfReport.close()
 
+process RunVcftools {
+  tag {vcf}
+
+  publishDir directoryMap.vcftools, mode: 'link'
+
+  input:
+    set variantCaller, file(vcf) from vcfForVCFtools
+
+  output:
+    file ("${vcf.baseName}.*") into vcfReport
+
+  when: !params.noReports
+
+  script:
+  """
+  vcftools \
+  --gzvcf ${vcf} \
+  --relatedness2 \
+  --out ${vcf.baseName}
+
+  vcftools \
+  --gzvcf ${vcf} \
+  --TsTv-by-count \
+  --out ${vcf.baseName}
+
+  vcftools \
+  --gzvcf ${vcf} \
+  --TsTv-by-qual \
+  --out ${vcf.baseName}
+
+  vcftools \
+  --gzvcf ${vcf} \
+  --FILTER-summary \
+  --out ${vcf.baseName}
+  """
+}
+
+if (params.verbose) vcfReport = vcfReport.view {
+  "VCFTools stats report:\n\
+  File  : [${it.fileName}]"
+}
+
+vcfReport.close()
 /*
 ================================================================================
 =                               F U N C T I O N S                              =
@@ -646,10 +696,11 @@ def defineDirectoryMap() {
     'bamQC'            : "${params.outDir}/Reports/bamQC",
     'bcftoolsStats'    : "${params.outDir}/Reports/BCFToolsStats",
     'samtoolsStats'    : "${params.outDir}/Reports/SamToolsStats",
+    'vcftools'         : "${params.outDir}/Reports/VCFTools",
     'ascat'            : "${params.outDir}/VariantCalling/Ascat",
     'freebayes'        : "${params.outDir}/VariantCalling/FreeBayes",
-    'haplotypecaller'  : "${params.outDir}/VariantCalling/HaplotypeCaller",
     'gvcf-hc'          : "${params.outDir}/VariantCalling/HaplotypeCallerGVCF",
+    'haplotypecaller'  : "${params.outDir}/VariantCalling/HaplotypeCaller",
     'manta'            : "${params.outDir}/VariantCalling/Manta",
     'mutect1'          : "${params.outDir}/VariantCalling/MuTect1",
     'mutect2'          : "${params.outDir}/VariantCalling/MuTect2",

runMultiQC.nf

@@ -89,6 +89,7 @@ process GenerateMultiQCconfig {
   echo "- 'samtools'" >> multiqc_config.yaml
   echo "- 'qualimap'" >> multiqc_config.yaml
   echo "- 'bcftools'" >> multiqc_config.yaml
+  echo "- 'vcftools'" >> multiqc_config.yaml
   echo "- 'snpeff'" >> multiqc_config.yaml
   """
 }
@@ -106,6 +107,7 @@ reportsForMultiQC = Channel.empty()
     Channel.fromPath("${directoryMap.markDuplicatesQC}/*"),
     Channel.fromPath("${directoryMap.samtoolsStats}/*"),
     Channel.fromPath("${directoryMap.snpeffReports}/*"),
+    Channel.fromPath("${directoryMap.vcftools}/*"),
     multiQCconfig
   ).collect()
 
@@ -148,10 +150,11 @@ def defineDirectoryMap() {
     'bamQC'            : "${params.outDir}/Reports/bamQC",
     'bcftoolsStats'    : "${params.outDir}/Reports/BCFToolsStats",
     'fastQC'           : "${params.outDir}/Reports/FastQC",
-    'snpeffReports'    : "${params.outDir}/Reports/SnpEff",
     'markDuplicatesQC' : "${params.outDir}/Reports/MarkDuplicates",
     'multiQC'          : "${params.outDir}/Reports/MultiQC",
-    'samtoolsStats'    : "${params.outDir}/Reports/SamToolsStats"
+    'samtoolsStats'    : "${params.outDir}/Reports/SamToolsStats",
+    'snpeffReports'    : "${params.outDir}/Reports/SnpEff",
+    'vcftools'         : "${params.outDir}/Reports/VCFTools"
   ]
 }
 

scripts/do_all.sh

@@ -46,7 +46,7 @@ do
     esac
 done
 
-if [ $GENOME = smallGRCh37 ]
+if [[ $GENOME = smallGRCh37 ]]
 then
     $GENOME = GRCh37
 fi
@@ -55,10 +55,10 @@ function toLower() {
     echo $1 | tr '[:upper:]' '[:lower:]'
 }
 
-if [ $TOOL = docker ] && [ GRCh37,GRCh38 =~ $GENOME ]
+if [[ $TOOL = docker ]] && [[ GRCh37,GRCh38 =~ $GENOME ]]
 then
-    nextflow run buildContainers.nf -profile ${PROFILE} --verbose --docker ${PUSH} --repository ${REPOSITORY} --tag ${TAG} --containers fastqc,freebayes,gatk,igvtools,multiqc,mutect1,picard,qualimap,r-base,runallelecount,sarek,snpeff
+    nextflow run buildContainers.nf -profile ${PROFILE} --verbose --docker ${PUSH} --repository ${REPOSITORY} --tag ${TAG} --containers fastqc,freebayes,gatk,igvtools,multiqc,mutect1,picard,qualimap,r-base,runallelecount,sarek,snpeff,vcftools
     nextflow run buildContainers.nf -profile ${PROFILE} --verbose --docker ${PUSH} --repository ${REPOSITORY} --tag ${TAG} --containers snpeff$(toLower ${GENOME}),vep$(toLower ${GENOME})
 else
-    nextflow run buildContainers.nf -profile ${PROFILE} --verbose --singularity --repository ${REPOSITORY} --tag ${TAG} --containerPath containers/ --containers fastqc,freebayes,gatk,igvtools,multiqc,mutect1,picard,qualimap,r-base,runallelecount,sarek,snpeff$(toLower ${GENOME}),vep$(toLower ${GENOME})
+    nextflow run buildContainers.nf -profile ${PROFILE} --verbose --singularity --repository ${REPOSITORY} --tag ${TAG} --containerPath containers/ --containers fastqc,freebayes,gatk,igvtools,multiqc,mutect1,picard,qualimap,r-base,runallelecount,sarek,snpeff$(toLower ${GENOME}),vcftools,vep$(toLower ${GENOME})
 fi

scripts/test.sh

@@ -85,7 +85,7 @@ fi
 
 if [[ ALL,STEP =~ $TEST ]]
 then
-  run_wrapper --germline --sample $SAMPLE
+  run_wrapper --germline --sampleDir data/tiny/tiny/normal
   run_wrapper --germline --step realign --noReports
   run_wrapper --germline --step recalibrate --noReports
   clean_repo

somaticVC.nf

@@ -428,8 +428,7 @@ process ConcatVCF {
     file(genomeIndex) from Channel.value(referenceMap.genomeIndex)
 
   output:
-    set variantCaller, idPatient, idSampleNormal, idSampleTumor, file("*.vcf.gz") into vcfConcatenated
-    file("*.vcf.gz.tbi") into vcfConcatenatedTbi
+    set variantCaller, idPatient, idSampleNormal, idSampleTumor, file("*.vcf.gz"), file("*.vcf.gz.tbi") into vcfConcatenated
 
   when: ('mutect1' in tools || 'mutect2' in tools || 'freebayes' in tools ) && !params.onlyQC
 
@@ -777,7 +776,11 @@ if (params.verbose) ascatOutput = ascatOutput.view {
 (strelkaIndels, strelkaSNVS) = strelkaOutput.into(2)
 (mantaSomaticSV, mantaDiploidSV) = mantaOutput.into(2)
 
-vcfForBCFtools = Channel.empty().mix(
+vcfForQC = Channel.empty().mix(
+  vcfConcatenated.map {
+    variantcaller, idPatient, idSampleNormal, idSampleTumor, vcf, tbi ->
+    [variantcaller, vcf]
+  },
   mantaDiploidSV.map {
     variantcaller, idPatient, idSampleNormal, idSampleTumor, vcf, tbi ->
     [variantcaller, vcf[2]]
@@ -799,6 +802,8 @@ vcfForBCFtools = Channel.empty().mix(
     [variantcaller, vcf[1]]
   })
 
+(vcfForBCFtools, vcfForVCFtools) = vcfForQC.into(2)
+
 process RunBcftoolsStats {
   tag {vcf}
 
@@ -825,6 +830,49 @@ if (params.verbose) bcfReport = bcfReport.view {
 
 bcfReport.close()
 
+process RunVcftools {
+  tag {vcf}
+
+  publishDir directoryMap.vcftools, mode: 'link'
+
+  input:
+    set variantCaller, file(vcf) from vcfForVCFtools
+
+  output:
+    file ("${vcf.baseName}.*") into vcfReport
+
+  when: !params.noReports
+
+  script:
+  """
+  vcftools \
+  --gzvcf ${vcf} \
+  --relatedness2 \
+  --out ${vcf.baseName}
+
+  vcftools \
+  --gzvcf ${vcf} \
+  --TsTv-by-count \
+  --out ${vcf.baseName}
+
+  vcftools \
+  --gzvcf ${vcf} \
+  --TsTv-by-qual \
+  --out ${vcf.baseName}
+
+  vcftools \
+  --gzvcf ${vcf} \
+  --FILTER-summary \
+  --out ${vcf.baseName}
+  """
+}
+
+if (params.verbose) vcfReport = vcfReport.view {
+  "VCFTools stats report:\n\
+  File  : [${it.fileName}]"
+}
+
+vcfReport.close()
 /*
 ================================================================================
 =                               F U N C T I O N S                              =
@@ -886,6 +934,7 @@ def defineDirectoryMap() {
     'bamQC'            : "${params.outDir}/Reports/bamQC",
     'bcftoolsStats'    : "${params.outDir}/Reports/BCFToolsStats",
     'samtoolsStats'    : "${params.outDir}/Reports/SamToolsStats",
+    'vcftools'         : "${params.outDir}/Reports/VCFTools",
     'ascat'            : "${params.outDir}/VariantCalling/Ascat",
     'freebayes'        : "${params.outDir}/VariantCalling/FreeBayes",
     'manta'            : "${params.outDir}/VariantCalling/Manta",