Changed VR tranches from old 0.1-10 to new 100 to 90.
Using hapmap training and truth based on wiki. Explicitly setting the ts_filter_level even though 99.0 is the default. Recal file path now ends with with .recal. Added ar's vcf input. Omni rod name now omni instead of 1kg. The VR RodBind tags had spaces in them. Was passing both the full intervals and the chunk intervals to chunk jobs. Switched back to chr20 for default since the VR crashes on small intervals sets with "MESSAGE: Matrix is singular." Log files names based on the file paths + .out. Added eval statifications by sample based on the Hybrid Selection / Whole Exome pipeline. git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5800 348d0f76-0448-11de-a6fe-93d51630548a
This commit is contained in:
kshakir
parent
08c13f3944
commit
95fc6c0a83
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@ -34,8 +34,8 @@ class WholeGenomePipeline extends QScript {
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@Argument(doc="path to tmp space for storing intermediate bam files", shortName="cleanerTmpDir", required=true)
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var cleanerTmpDir: String = _
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@Argument(doc="Flag for running the whole genome (wg), chromosome 20 (chr20) or just the centromere of chromosome 1 (cent1). The default is cent1.", shortName="runType", required=false)
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var runType = "cent1"
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@Argument(doc="Flag for running the whole genome (wg) or chromosome 20 (chr20). The default is chr20.", shortName="runType", required=false)
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var runType = "chr20"
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@Argument(doc="Chunk size. Defaults to 3,000,000", shortName="chunk", required=false)
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var chunkSize = 3000000
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@ -56,27 +56,32 @@ class WholeGenomePipeline extends QScript {
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override def toString = toInterval
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}
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val chr1Centromere = new ChrRange("1", 121429168, 121529169)
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var runIntervals = List.empty[String]
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def script() {
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val rangeMap = Map(
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"cent1" -> new ChrRange("1", 121429168, 121529168),
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"cent16" -> new ChrRange("16", 40844464, 40944464),
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"chr20" -> new ChrRange("20", 1, 63025520),
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"chr20_100k" -> new ChrRange("20", 100001, 200000))
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var ranges = Traversable.empty[ChrRange]
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val chrs = IntervalUtils.getContigSizes(reference)
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runType match {
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case "wg" =>
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runType = runType.toLowerCase
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if (runType == "wg") {
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// use all chromosomes from 1 to their length
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ranges = chrs.map { case (chr, len) => new ChrRange(chr, 1, len.longValue) }
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runIntervals = Nil
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case "chr20" =>
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// use chromosome 20 from 1 to its length
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ranges = chrs.filterKeys(_ == "20").map { case (chr, len) => new ChrRange(chr, 1, len.longValue) }
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runIntervals = List(ranges.head.toInterval)
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case "cent1" =>
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// use chromosome 1 centromere
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ranges = List(chr1Centromere)
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runIntervals = List(ranges.head.toInterval)
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} else {
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rangeMap.get(runType) match {
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case Some(range) =>
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ranges = List(range)
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runIntervals = List(range.toInterval)
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case None =>
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throw new RuntimeException("Inalid runType: " + runType + ". Must be one of: " + rangeMap.keys.mkString(", ") + ", or wg")
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}
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}
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val project = Array(".bams.list", ".bam.list", ".list").foldLeft(bamList.getName)(_.stripSuffix(_))
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@ -93,22 +98,24 @@ class WholeGenomePipeline extends QScript {
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while (start <= chrStop) {
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val stop = (start + chunkSize - 1) min chrStop
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var interval = "%s:%d-%d".format(chr, start, stop)
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val chunkBase: String = "chunks/" + project + "." + runType + "_chunk_" + chr + "_" + chunkNumber
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val tmpBase: String = cleanerTmpDir + "/" + chunkBase
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val chunkInterval = "%s:%d-%d".format(chr, start, stop)
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val target = new RealignerTargetCreator with CommandLineGATKArgs
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target.intervalsString :+= interval
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target.intervalsString = List(chunkInterval)
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target.input_file :+= bamList
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target.mismatchFraction = 0.0
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target.maxIntervalSize = 700
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target.out = tmpBase + ".target.intervals"
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target.jobOutputFile = chunkBase + ".target.out"
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target.jobOutputFile = chunkBase + ".target.intervals.out"
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target.isIntermediate = true
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add(target)
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val clean = new IndelRealigner with CommandLineGATKArgs
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clean.intervalsString :+= interval
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clean.intervalsString = List(chunkInterval)
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clean.input_file :+= bamList
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clean.targetIntervals = target.out
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clean.rodBind :+= RodBind("dbsnp", "VCF", dbsnp)
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@ -116,13 +123,13 @@ class WholeGenomePipeline extends QScript {
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clean.simplifyBAM = true
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clean.bam_compression = 1
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clean.out = tmpBase + ".cleaned.bam"
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clean.jobOutputFile = chunkBase + ".clean.out"
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clean.jobOutputFile = chunkBase + ".cleaned.bam.out"
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clean.jobPriority = 51
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clean.isIntermediate = true
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add(clean)
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val call = new UnifiedGenotyper with CommandLineGATKArgs
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call.intervalsString :+= interval
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call.intervalsString = List(chunkInterval)
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call.input_file :+= clean.out
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call.rodBind :+= RodBind("dbsnp", "VCF", dbsnp)
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call.downsample_to_coverage = 50
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@ -133,7 +140,7 @@ class WholeGenomePipeline extends QScript {
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call.genotype_likelihoods_model = org.broadinstitute.sting.gatk.walkers.genotyper.GenotypeLikelihoodsCalculationModel.Model.BOTH
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call.GSA_PRODUCTION_ONLY = true
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call.out = chunkBase + ".vcf"
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call.jobOutputFile = chunkBase + ".call.out"
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call.jobOutputFile = call.out + ".out"
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call.jobPriority = 52
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add(call)
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@ -149,15 +156,15 @@ class WholeGenomePipeline extends QScript {
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combineVCFs.variantmergeoption = org.broadinstitute.sting.gatk.contexts.variantcontext.VariantContextUtils.VariantMergeType.UNION
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combineVCFs.genotypemergeoption = org.broadinstitute.sting.gatk.contexts.variantcontext.VariantContextUtils.GenotypeMergeType.PRIORITIZE
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combineVCFs.out = projectBase + ".merged.vcf"
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combineVCFs.jobOutputFile = projectBase + ".combine.out"
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combineVCFs.jobOutputFile = combineVCFs.out + ".out"
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combineVCFs.assumeIdenticalSamples = true
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add(combineVCFs)
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val sv = new SelectVariants with CommandLineGATKArgs
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sv.selectIndels = true
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sv.rodBind :+= RodBind("variant", "VCF", combineVCFs.out)
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sv.out = swapExt(combineVCFs.out, ".merged.vcf", ".indels.vcf")
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sv.jobOutputFile = swapExt(combineVCFs.jobOutputFile, ".combine.out", ".sv.out")
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sv.out = projectBase + ".indels.vcf"
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sv.jobOutputFile = sv.out + ".out"
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add(sv)
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val filter = new VariantFiltration with CommandLineGATKArgs
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@ -165,7 +172,7 @@ class WholeGenomePipeline extends QScript {
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filter.filterName :+= "HARD_TO_VALIDATE"
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filter.filterExpression :+= "\"MQ0 >= 4 && (MQ0 / (1.0 * DP)) > 0.1\""
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filter.out = swapExt(sv.out, ".vcf", ".filtered.vcf")
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filter.jobOutputFile = swapExt(sv.jobOutputFile, ".sv.out", ".filter.out")
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filter.jobOutputFile = filter.out + ".out"
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add(filter)
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val recombine = new CombineVariants with CommandLineGATKArgs
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@ -174,28 +181,30 @@ class WholeGenomePipeline extends QScript {
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recombine.rod_priority_list = "indels,all"
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recombine.genotypemergeoption = org.broadinstitute.sting.gatk.contexts.variantcontext.VariantContextUtils.GenotypeMergeType.PRIORITIZE
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recombine.out = swapExt(combineVCFs.out, ".vcf", ".filtered.vcf")
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recombine.jobOutputFile = swapExt(combineVCFs.jobOutputFile, ".combine.out", ".recombine.out")
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recombine.jobOutputFile = recombine.out + ".out"
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add(recombine)
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val vr = new VariantRecalibrator with CommandLineGATKArgs
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vr.rodBind :+= RodBind("input", "VCF", recombine.out)
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vr.rodBind :+= RodBind("hapmap", "VCF", hapmap, "training=true, prior=3.0")
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vr.rodBind :+= RodBind("1kg", "VCF", omni, "training=true, prior=3.0")
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vr.rodBind :+= RodBind("dbsnp", "VCF", dbsnp, "known=true")
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vr.rodBind :+= RodBind("hapmap", "VCF", hapmap, "known=false,training=true,truth=true,prior=15.0")
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vr.rodBind :+= RodBind("omni", "VCF", omni, "known=false,training=true,truth=false,prior=12.0")
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vr.rodBind :+= RodBind("dbsnp", "VCF", dbsnp, "known=true,training=false,truth=false,prior=10.0")
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vr.use_annotation = List("QD", "SB", "HaplotypeScore", "HRun")
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vr.trustAllPolymorphic = true
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vr.TStranche = List("0.1","0.5","0.75","1.0","1.25","1.35","1.5","1.7","1.8","1.9","2.0","2.1","2.2","2.3","2.5","3.0","5.0","8.0","10.0")
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vr.tranches_file = swapExt(filter.out, ".merged.filtered.vcf", ".tranches")
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vr.recal_file = swapExt(filter.out, ".merged.filtered.vcf", "")
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vr.jobOutputFile = swapExt(combineVCFs.jobOutputFile, ".combine.out", ".cr.out")
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vr.TStranche = List("100.0", "99.9", "99.5", "99.3", "99.0", "98.9", "98.8", "98.5", "98.4", "98.3", "98.2", "98.1", "98.0", "97.9", "97.8", "97.5", "97.0", "95.0", "90.0")
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vr.tranches_file = swapExt(filter.out, ".vcf", ".tranches")
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vr.recal_file = swapExt(filter.out, ".vcf", ".recal")
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vr.jobOutputFile = vr.recal_file + ".out"
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add(vr)
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val ar = new ApplyRecalibration with CommandLineGATKArgs
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ar.rodBind :+= RodBind("input", "VCF", recombine.out)
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ar.tranches_file = vr.tranches_file
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ar.recal_file = vr.recal_file
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ar.ts_filter_level = 99.0
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ar.ignore_filter :+= "HARD_TO_VALIDATE"
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ar.out = swapExt(filter.out, ".vcf", ".recalibrated.vcf")
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ar.jobOutputFile = swapExt(combineVCFs.jobOutputFile, ".combine.out", ".ar.out")
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ar.out = swapExt(recombine.out, ".vcf", ".recalibrated.vcf")
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ar.jobOutputFile = ar.out + ".out"
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add(ar)
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val stdEval = new VariantEval with CommandLineGATKArgs
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@ -205,9 +214,9 @@ class WholeGenomePipeline extends QScript {
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stdEval.doNotUseAllStandardStratifications = true
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stdEval.doNotUseAllStandardModules = true
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stdEval.evalModule = List("SimpleMetricsByAC", "TiTvVariantEvaluator", "CountVariants")
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stdEval.stratificationModule = List("EvalRod", "CompRod", "Novelty")
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stdEval.stratificationModule = List("EvalRod", "CompRod", "Novelty", "Filter", "FunctionalClass", "Sample")
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stdEval.out = swapExt(ar.out, ".vcf", ".eval")
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stdEval.jobOutputFile = swapExt(combineVCFs.jobOutputFile, ".combine.out", ".eval.out")
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stdEval.jobOutputFile = stdEval.out + ".out"
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add(stdEval)
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}
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}
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