diff --git a/scala/qscript/core/MethodsDevelopmentCallingPipeline.scala b/scala/qscript/core/MethodsDevelopmentCallingPipeline.scala index 0733bc87e..d3fb7654b 100755 --- a/scala/qscript/core/MethodsDevelopmentCallingPipeline.scala +++ b/scala/qscript/core/MethodsDevelopmentCallingPipeline.scala @@ -1,5 +1,3 @@ -import org.broadinstitute.sting.commandline.ArgumentSource -import org.broadinstitute.sting.gatk.CommandLineGATK import org.broadinstitute.sting.queue.extensions.gatk._ import org.broadinstitute.sting.queue.QScript import org.broadinstitute.sting.gatk.phonehome.GATKRunReport @@ -75,7 +73,8 @@ class MethodsDevelopmentCallingPipeline extends QScript { val hg18 = new File("/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta") val b36 = new File("/humgen/1kg/reference/human_b36_both.fasta") val b37 = new File("/humgen/1kg/reference/human_g1k_v37.fasta") - val dbSNP_hg18 = "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/dbSNP/dbsnp_130_hg18.rod" + val dbSNP_hg18 = "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/dbSNP/dbsnp_130_hg18.rod" // Special case for NA12878 collections that can't use 132 because they are part of it. + val dbSNP_hg18_129 = "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/dbSNP/dbsnp_129_hg18.rod" val dbSNP_b36 = "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/dbSNP/dbsnp_130_b36.rod" val dbSNP_b37 = "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/dbSNP/dbsnp_132_b37.leftAligned.vcf" val dbSNP_b37_129 = "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/dbSNP/dbsnp_129_b37.rod" // Special case for NA12878 collections that can't use 132 because they are part of it. @@ -107,15 +106,19 @@ class MethodsDevelopmentCallingPipeline extends QScript { new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.bam"), new File("/humgen/gsa-scr1/carneiro/prj/hiseq19/analysis/snps/NA12878.hg19.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.hg19.intervals", 2.3, !lowPass), // ** we need a chunked hg19 whole genome intervals file ** - "FIN" -> new Target("FIN", b37, dbSNP_b37, hapmap_b37, indelMask_b37, - new File("/humgen/1kg/processing/pipeline_test_bams/FIN.79sample.Nov2010.chr20.bam"), - new File("/humgen/gsa-hpprojects/dev/data/AugChr20Calls_v4_3state/ALL.august.v4.chr20.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** - "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.chr20.hg19.intervals", 2.3, lowPass), - "WEx" -> new Target("NA12878.WEx", hg18, dbSNP_hg18, hapmap_hg18, + "WEx" -> new Target("NA12878.WEx", hg18, dbSNP_hg18_129, hapmap_hg18, "/humgen/gsa-hpprojects/dev/depristo/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/GA2.WEx.cleaned.indels.10.mask", new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.WEx.cleaned.recal.bam"), new File("/home/radon01/depristo/work/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/GA2.WEx.cleaned.ug.snpfiltered.indelfiltered.vcf"), "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.targets.interval_list", 2.6, !lowPass), + "WExTrio" -> new Target("CEUTrio.WEx", hg19, dbSNP_b37_129, hapmap_b37, indelMask_b37, + new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WEx.bwa.cleaned.recal.bam"), + new File("/humgen/gsa-scr1/carneiro/prj/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), + "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list", 2.6, !lowPass), + "FIN" -> new Target("FIN", b37, dbSNP_b37, hapmap_b37, indelMask_b37, + new File("/humgen/1kg/processing/pipeline_test_bams/FIN.79sample.Nov2010.chr20.bam"), + new File("/humgen/gsa-hpprojects/dev/data/AugChr20Calls_v4_3state/ALL.august.v4.chr20.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** + "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.chr20.hg19.intervals", 2.3, lowPass), "TGPWExGdA" -> new Target("1000G.WEx.GdA", b37, dbSNP_b37, hapmap_b37, indelMask_b37, new File("/humgen/1kg/processing/pipeline_test_bams/Barcoded_1000G_WEx_Reduced_Plate_1.cleaned.list"), // BUGBUG: reduce from 60 to 20 people new File("/humgen/gsa-scr1/delangel/NewUG/calls/AugustRelease.filtered_Q50_QD5.0_SB0.0.allSamples.SNPs_hg19.WEx_UG_newUG_MQC.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** @@ -131,12 +134,7 @@ class MethodsDevelopmentCallingPipeline extends QScript { "LowPassEUR363Nov" -> new Target("EUR.nov2010", b37, dbSNP_b37, hapmap_b37, indelMask_b37, new File("/humgen/1kg/processing/pipeline_test_bams/EUR.363sample.Nov2010.chr20.bam"), new File("/humgen/gsa-hpprojects/dev/data/AugChr20Calls_v4_3state/ALL.august.v4.chr20.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** - "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.chr20.hg19.intervals", 2.3, lowPass), - - "WExTrio" -> new Target("CEUTrio.WEx", hg19, dbSNP_b37_129, hapmap_b37, indelMask_b37, - new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WEx.bwa.cleaned.recal.bam"), - new File("/humgen/gsa-scr1/carneiro/prj/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), - "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list", 2.6, !lowPass) + "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.chr20.hg19.intervals", 2.3, lowPass) ) @@ -154,16 +152,16 @@ class MethodsDevelopmentCallingPipeline extends QScript { val goldStandard = true for (target <- targets) { if( !skipCalling ) { - add(new UnifiedGenotyper(target)) - add(new VariantFiltration(target)) - add(new GenerateVariantClusters(target, !goldStandard)) + add(new Call(target)) + add(new Filter(target)) + add(new GenerateClusters(target, !goldStandard)) add(new VariantRecalibratorTiTv(target, !goldStandard)) add(new VariantRecalibratorNRS(target, !goldStandard)) if (!noCut) add (new VariantCut(target)) if (eval) add(new VariantEvaluation(target)) } if ( !skipGoldStandard ) { - add(new GenerateVariantClusters(target, goldStandard)) + add(new GenerateClusters(target, goldStandard)) add(new VariantRecalibratorTiTv(target, goldStandard)) add(new VariantRecalibratorNRS(target, goldStandard)) } @@ -175,7 +173,7 @@ class MethodsDevelopmentCallingPipeline extends QScript { val FiltersToIgnore = List("DPFilter", "ABFilter", "ESPStandard", "QualByDepth", "StrandBias", "HomopolymerRun") // 1.) Call SNPs with UG - class UnifiedGenotyper(t: Target) extends org.broadinstitute.sting.queue.extensions.gatk.UnifiedGenotyper with UNIVERSAL_GATK_ARGS { + class Call (t: Target) extends UnifiedGenotyper with UNIVERSAL_GATK_ARGS { this.reference_sequence = t.reference this.intervalsString ++= List(t.intervals) this.scatterCount = 63 // the smallest interval list has 63 intervals, one for each Mb on chr20 @@ -188,7 +186,9 @@ class MethodsDevelopmentCallingPipeline extends QScript { this.analysisName = t.name + "_UG" if (t.dbsnpFile.endsWith(".rod")) this.DBSNP = new File(t.dbsnpFile) else if (t.dbsnpFile.endsWith(".vcf")) this.rodBind :+= RodBind("dbsnp", "VCF", t.dbsnpFile) -/* + + //todo -- beautify scattergather directory structure + /* this.setupScatterFunction = { case scatter: ScatterFunction => scatter.commandDirectory = new File("UG/ScatterGather") @@ -204,11 +204,11 @@ class MethodsDevelopmentCallingPipeline extends QScript { gather.commandDirectory = new File("UG/ScatterGather/Gather_%s".format(source.field.getName)) gather.jobOutputFile = new File(".queue/UG/ScatterGather/Gather_%s.out".format(source.field.getName)) } -*/ + */ } // 2.) Filter SNPs - class VariantFiltration(t: Target) extends org.broadinstitute.sting.queue.extensions.gatk.VariantFiltration with UNIVERSAL_GATK_ARGS { + class Filter (t: Target) extends VariantFiltration with UNIVERSAL_GATK_ARGS { this.reference_sequence = t.reference this.intervalsString ++= List(t.intervals) this.scatterCount = 10 @@ -224,7 +224,7 @@ class MethodsDevelopmentCallingPipeline extends QScript { } // 3.) VQSR part1 Generate Gaussian clusters based on truth sites - class GenerateVariantClusters(t: Target, goldStandard: Boolean) extends org.broadinstitute.sting.queue.extensions.gatk.GenerateVariantClusters with UNIVERSAL_GATK_ARGS { + class GenerateClusters(t: Target, goldStandard: Boolean) extends GenerateVariantClusters with UNIVERSAL_GATK_ARGS { val name: String = if ( goldStandard ) { t.goldStandardName } else { t.name } this.reference_sequence = t.reference this.rodBind :+= RodBind("hapmap", "VCF", t.hapmapFile) @@ -246,7 +246,7 @@ class MethodsDevelopmentCallingPipeline extends QScript { } // 4.) VQSR part2 Calculate new LOD for all input SNPs by evaluating the Gaussian clusters - class VariantRecalibratorBase(t: Target, goldStandard: Boolean) extends org.broadinstitute.sting.queue.extensions.gatk.VariantRecalibrator with UNIVERSAL_GATK_ARGS { + class VariantRecalibratorBase(t: Target, goldStandard: Boolean) extends VariantRecalibrator with UNIVERSAL_GATK_ARGS { val name: String = if ( goldStandard ) { t.goldStandardName } else { t.name } this.reference_sequence = t.reference if( t.hapmapFile.contains("b37") ) @@ -284,8 +284,8 @@ class MethodsDevelopmentCallingPipeline extends QScript { this.tranchesFile = t.tsTranchesFile } - // 5.) Variant Cut (OPTIONAL!) filter out the variants marked by recalibration to the 99% tranche - class VariantCut(t: Target) extends org.broadinstitute.sting.queue.extensions.gatk.ApplyVariantCuts with UNIVERSAL_GATK_ARGS { + // 5.) Variant Cut filter out the variants marked by recalibration to the 99% tranche + class VariantCut(t: Target) extends ApplyVariantCuts with UNIVERSAL_GATK_ARGS { this.reference_sequence = t.reference this.rodBind :+= RodBind("input", "VCF", t.tsRecalibratedVCF ) this.analysisName = t.name + "_VC" @@ -299,8 +299,8 @@ class MethodsDevelopmentCallingPipeline extends QScript { this.rodBind :+= RodBind("dbsnp", "VCF", t.dbsnpFile) } - // 6.) Variant Evaluation (OPTIONAL!) based on the sensitivity recalibrated vcf - class VariantEvaluation(t: Target) extends org.broadinstitute.sting.queue.extensions.gatk.VariantEval with UNIVERSAL_GATK_ARGS { + // 6.) Variant Evaluation (OPTIONAL) based on the sensitivity recalibrated vcf + class VariantEvaluation(t: Target) extends VariantEval with UNIVERSAL_GATK_ARGS { val name: String = t.name this.reference_sequence = t.reference this.rodBind :+= RodBind("hapmap", "VCF", t.hapmapFile)