diff --git a/scala/qscript/depristo/VQSRCutByNRS.scala b/scala/qscript/depristo/VQSRCutByNRS.scala new file mode 100755 index 000000000..74d1f60ac --- /dev/null +++ b/scala/qscript/depristo/VQSRCutByNRS.scala @@ -0,0 +1,97 @@ +import org.broadinstitute.sting.queue.extensions.picard.PicardBamJarFunction +import org.broadinstitute.sting.queue.extensions.gatk._ +import org.broadinstitute.sting.queue.extensions.samtools.SamtoolsIndexFunction +import org.broadinstitute.sting.queue.QScript +import org.apache.commons.io.FilenameUtils; +import scala.io.Source._ + +class recalibrate extends QScript { + // @Input(doc="bamIn", shortName="I", required=true) + // var bamList: File = _ + + @Argument(doc="gatk jar file") + var gatkJarFile: File = _ + + // @Argument(shortName = "R", doc="ref") + // var referenceFile: File = _ + + @Argument(fullName = "prefix", doc="Prefix argument", required=false) + var prefix: String = "" + + trait UNIVERSAL_GATK_ARGS extends CommandLineGATK { logging_level = "INFO"; jarFile = gatkJarFile; memoryLimit = Some(4) } + +class Target(val name: String, val reference: File, val rodName: String, val VCF: File, val intervals: Option[String], val titvTarget: Double) { + def clusterFile = new File(name + ".clusters") +} + +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 hg19 = new File("/seq/references/Homo_sapiens_assembly19/v0/Homo_sapiens_assembly19.fasta") + +val HiSeq = new Target("NA12878.HiSeq", hg18, "hg18", new File("/home/radon01/depristo/work/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/HiSeq.WGS.cleaned.ug.snpfiltered.indelfiltered.vcf"), None, 2.07) +val WEx = new Target("NA12878.WEx", hg18, "hg18", new File("/home/radon01/depristo/work/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/GA2.WEx.cleaned.ug.snpfiltered.indelfiltered.vcf"), Some("~/localData/whole_exome_agilent_1.1_refseq_plus_3_boosters.targets.interval_list"), 2.6) +val LowPassN60 = new Target("lowpass.N60", b36, "b36", new File("lowpass.N60.chr20.filtered.vcf"), Some("20"), 2.3) +val LowPassAugust = new Target("ALL.august.v3", hg19, "b37", new File("ALL.august.v3.chr20.filtered.vcf"), Some("20"), 2.3) +val TGPWExFH = new Target("1000G.WEx.FH", hg19, "b37", new File("/humgen/gsa-pipeline/PQ7LC/all_batches_v006/Plate_1/SnpCalls/Barcoded_1000G_WEx_Plate_1.cleaned.annotated.handfiltered.vcf"), Some("/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"), 3.0) +val TGPWExGdA = new Target("1000G.WEx.GdA", hg19, "b37", new File("/humgen/gsa-scr1/delangel/NewUG/calls/AugustRelease.filtered_Q50_QD5.0_SB0.0.allSamples.SNPs_hg19.WEx_UG_newUG_MQC.vcf"), Some("/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"), 3.0) + +val targets = List(HiSeq, WEx, LowPassN60, LowPassAugust, TGPWExFH, TGPWExGdA) + +def script = { + for (target <- targets) { + add(new GenerateVariantClusters(target) ) + add(new VariantRecalibratorTiTv(target) ) + add(new VariantRecalibratorNRS(target) ) + } +} + +def bai(bam: File) = new File(bam + ".bai") + +val FiltersToIgnore = List("DPFilter", "ABFilter", "ESPStandard", "QualByDepth", "StrandBias", "HomopolymerRun") + +class GenerateVariantClusters(t: Target) extends org.broadinstitute.sting.queue.extensions.gatk.GenerateVariantClusters with UNIVERSAL_GATK_ARGS { + this.reference_sequence = t.reference + this.DBSNP = new File("/humgen/gsa-hpprojects/GATK/data/dbsnp_129_" + t.rodName + ".rod") + this.rodBind :+= RodBind("hapmap", "VCF", "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/HapMap/3.2/genotypes_r27_nr." + t.rodName + "_fwd.vcf") + this.rodBind :+= RodBind("input", "VCF", t.VCF) + this.clusterFile = t.clusterFile + this.use_annotation ++= List("QD", "SB", "HaplotypeScore", "HRun") + this.analysisName = t.name + "_Cluster" + if ( t.intervals != None ) this.intervalsString ++= List(t.intervals.get) + this.qual = Some(300) + this.std = Some(3.5) + this.mG = Some(16) // v2 calls + // ignores + this.ignoreFilter ++= FiltersToIgnore +} + + +class VariantRecalibratorBase(t: Target) extends org.broadinstitute.sting.queue.extensions.gatk.VariantRecalibrator with UNIVERSAL_GATK_ARGS { + this.reference_sequence = t.reference + this.DBSNP = new File("/humgen/gsa-hpprojects/GATK/data/dbsnp_129_" + t.rodName + ".rod") + this.rodBind :+= RodBind("hapmap", "VCF", "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/HapMap/3.2/genotypes_r27_nr." + t.rodName + "_fwd.vcf") + this.rodBind :+= RodBind("truth", "VCF", "/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/HapMap/3.2/genotypes_r27_nr." + t.rodName + "_fwd.vcf") + this.rodBind :+= RodBind("input", "VCF", t.VCF) + this.clusterFile = t.clusterFile + this.analysisName = t.name+"_VR" + if ( t.intervals != None ) this.intervalsString ++= List(t.intervals.get) + this.ignoreFilter ++= FiltersToIgnore + this.ignoreFilter ++= List("HARD_TO_VALIDATE") + this.priorDBSNP = Some(2.0) + this.priorHapMap = Some(2.0) + this.target_titv = t.titvTarget +} + +class VariantRecalibratorTiTv(t: Target) extends VariantRecalibratorBase(t) { + this.tranche ++= List("0.1", "1.0", "10.0", "100.0") + this.out = new File(t.name + ".titv.recalibrated.vcf") + this.tranchesFile = new File(t.name + ".titv.tranches") +} + +class VariantRecalibratorNRS(t: Target) extends VariantRecalibratorBase(t) { + this.sm = Some(org.broadinstitute.sting.gatk.walkers.variantrecalibration.VariantRecalibrator.SelectionMetricType.TRUTH_SENSITIVITY) + this.tranche ++= List("50", "25", "10", "5", "2", "1", "0.5", "0.1") + this.out = new File(t.name + ".ts.recalibrated.vcf") + this.tranchesFile = new File(t.name + ".ts.tranches") +} +}