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(3) } 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) val allTailedAnnotations = List("QD+", "SB-", "HaplotypeScore-", "HRun-") val someTailedAnnotations = List("QD", "SB-", "HaplotypeScore-", "HRun") val twoTailedAnnotations = List("QD", "SB", "HaplotypeScore", "HRun") def script = { for (target <- targets) { add(new GenerateVariantClusters(target) ) add(new VariantRecalibratorTiTv(target, someTailedAnnotations, ".sb.hs.tailed") ) add(new VariantRecalibratorNRS(target, someTailedAnnotations, ".sb.hs.tailed") ) add(new VariantRecalibratorTiTv(target, allTailedAnnotations, ".all.tailed") ) add(new VariantRecalibratorNRS(target, allTailedAnnotations, ".all.tailed") ) add(new VariantRecalibratorTiTv(target, twoTailedAnnotations, ".untailed") ) add(new VariantRecalibratorNRS(target, twoTailedAnnotations, ".untailed") ) } } 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, ans: List[String]) 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 this.use_annotation ++= ans this.out = new File("/dev/null") } class VariantRecalibratorTiTv(t: Target, ans: List[String], prefix: String) extends VariantRecalibratorBase(t, ans) { 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 + prefix + ".titv.tranches") } class VariantRecalibratorNRS(t: Target, ans: List[String], prefix: String) extends VariantRecalibratorBase(t,ans) { 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 + prefix + ".ts.tranches") } }