diff --git a/README.md b/README.md index 89e7a6fe..ff0f2af3 100755 --- a/README.md +++ b/README.md @@ -20,4 +20,3 @@ Based on quality thresholds from the GATK "best practices"5, the SNPs 3. Tarasov A et al. (2015). Sambamba: Fast processing of NGS alignment formats.
4. McKenna A et al. (2010). The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
5. Van der Auwera GA et al. (2013). From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
- diff --git a/parameters.csv b/parameters.csv index 9e5ca227..f70b4ee7 100644 --- a/parameters.csv +++ b/parameters.csv @@ -322,4 +322,5 @@ sampleDragenRawVariantCalls,${samplePrefix}.hard-filtered.g.vcf.gz noMerge,no yesMerge,yes concordanceCheckSnps,${dataDir}/UMCG/concordanceCheckSnps.bed -concordanceCheckCallsVcf,${samplePrefix}.concordanceCheckCalls.vcf \ No newline at end of file +concordanceCheckCallsVcf,${samplePrefix}.concordanceCheckCalls.vcf +concordanceCheckCallsVcfInputGVCF,${intermediateDir}/${externalSampleID}.merged.g.vcf.gz diff --git a/protocols/ConcordanceCheckGenotyping.sh b/protocols/ConcordanceCheckGenotyping.sh index 7e960241..b61b753c 100755 --- a/protocols/ConcordanceCheckGenotyping.sh +++ b/protocols/ConcordanceCheckGenotyping.sh @@ -13,6 +13,7 @@ set -o pipefail #string externalSampleID #string concordanceCheckSnps #string concordanceCheckCallsVcf +#string inputGVCF #Function to check if array contains value @@ -24,11 +25,11 @@ module purge module load "${gatkVersion}" module list -if [[ -f "${intermediateDir}/${externalSampleID}.merged.g.vcf.gz" ]] +if [[ -f "${inputGVCF}" ]] then gatk --java-options "-Xmx7g -XX:ParallelGCThreads=2 -Djava.io.tmpdir=${tempDir}" GenotypeGVCFs \ -R "${indexFile}" \ - --variant "${intermediateDir}/${externalSampleID}.merged.g.vcf.gz" \ + --variant "${inputGVCF}" \ --include-non-variant-sites true \ -L "${concordanceCheckSnps}" \ -O "${tmpConcordanceCheckCallsVcf}" @@ -36,5 +37,5 @@ then mv -v "${tmpConcordanceCheckCallsVcf}" "${concordanceCheckCallsVcf}" else - echo "The ${intermediateDir}/${externalSampleID}.merged.g.vcf.gz does not exist" + echo "The ${inputGVCF} does not exist" fi diff --git a/workflow.csv b/workflow.csv index 1acfdde5..5e0c4b13 100644 --- a/workflow.csv +++ b/workflow.csv @@ -21,7 +21,7 @@ s14b_CombineGVCFs,protocols/CombineGVCFs.sh,s14a_VariantCalling s14c_GenotypeVariants,protocols/VariantGenotyping.sh,s14b_CombineGVCFs;dbSnp=dbSNP137Vcf s15_CoverageCalculationsGvcf,protocols/CoverageCalculations_gvcf.sh,s14c_GenotypeVariants;variantCalls=sampleMergedBatchVariantCalls;merge=yesMerge s16_AnnotateVcf,protocols/AnnotateVcf.sh,s14c_GenotypeVariants -s17_ConcordanceCheckGenotyping,protocols/ConcordanceCheckGenotyping.sh,s15_CoverageCalculationsGvcf +s17_ConcordanceCheckGenotyping,protocols/ConcordanceCheckGenotyping.sh,s15_CoverageCalculationsGvcf;inputGVCF=concordanceCheckCallsVcfInputGVCF s18_SnpEff,protocols/SnpEff.sh,s16_AnnotateVcf s19_MergeBatches,protocols/MergeBatches.sh,s18_SnpEff;extension=annotatedSnpEffExtension s20_SplitIndelsAndSNPs,protocols/SplitIndelsAndSNPs.sh,s19_MergeBatches diff --git a/workflow_DRAGEN.csv b/workflow_DRAGEN.csv index 8c505c3a..1863b1e0 100644 --- a/workflow_DRAGEN.csv +++ b/workflow_DRAGEN.csv @@ -4,7 +4,7 @@ s02_ProcessDragenTrendAnalysis,protocols/ProcessDragenTrendAnalysis.sh,s01_Prepa s03_CoverageCalculations,protocols/CoverageCalculations_gvcf.sh,s01_PrepareDragenData;variantCalls=sampleDragenRawVariantCalls;merge=noMerge s04_AnnotateVcf,protocols/AnnotateVcf_perSample.sh,s01_PrepareDragenData;variantCalls=sampleDragenVariantCalls s05_SnpEff,protocols/SnpEff_perSample.sh,s04_AnnotateVcf -s06_ConcordanceCheckGenotyping,protocols/ConcordanceCheckGenotyping.sh,s03_CoverageCalculations +s06_ConcordanceCheckGenotyping,protocols/ConcordanceCheckGenotyping.sh,s03_CoverageCalculations;inputGVCF=sampleDragenRawVariantCalls s08_Gavin,protocols/Gavin.sh,s05_SnpEff;inputFile=sampleVariantCallsSnpEff_Annotated s09_ReheaderVcf,protocols/ReheaderVCF.sh,s08_Gavin s10_PipelineFinished,protocols/PipelineFinished.sh,s02_ProcessDragenTrendAnalysis;s06_ConcordanceCheckGenotyping;s09_ReheaderVcf