import farm_commands import os.path import sys from optparse import OptionParser from datetime import date import glob import operator import faiReader import math import shutil class CallTarget: def __init__(self, name, hetero, minQ = 50, depth = 120, truthGFFName = None, variantEvalArgs = '', otherVCF = None): self.name = name self.hetero = hetero self.minQ = minQ self.depth = depth if truthGFFName <> None: self.truthGFFName = truthGFFName else: self.truthGFFName = name self.variantEvalArgs = variantEvalArgs self.otherVCF = otherVCF self.unionVCF = None if otherVCF != None: self.unionVCF = self.name + '.gatk.glftrio.union.filtered.vcf' CEU_HET = 0.79e-3 YRI_HET = 1.0e-3 targets = [ CallTarget('NA12878', CEU_HET), CallTarget('NA12891', CEU_HET), CallTarget('NA12892', CEU_HET), CallTarget('NA19238', YRI_HET), CallTarget('NA19239', YRI_HET), CallTarget('NA19240', YRI_HET), CallTarget('NA19240.alltechs', YRI_HET, 50, 120, 'NA19240'), CallTarget('NA12878.alltechs', CEU_HET, 50, 120, 'NA12878'), CallTarget('ceu.trio', CEU_HET, 50, 360, 'NA12878', '--sampleName NA12878', '/humgen/gsa-hpprojects/1kg/1kg_pilot2/currentBestProjectCalls/CEU_1kg_pilot2.vcf'), CallTarget('yri.trio', YRI_HET, 50, 360, 'NA19240', '--sampleName NA19240', '/humgen/gsa-hpprojects/1kg/1kg_pilot2/currentBestProjectCalls/YRI_1kg_pilot2.vcf'), ] sets = ['Intersection', 'filteredInBoth', 'gatk', 'gatk-filteredInOther', 'glftrio', 'glftrio-filteredInOther', 'Intersection', ['gatk-unique', 'gatk.*'], ['glftrio-unique', 'glftrio.*']] def main(): global OPTIONS usage = "usage: %prog stage [options]" parser = OptionParser(usage=usage) # parser.add_option("-q", "--farm", dest="farmQueue", # type="string", default=None, # help="Farm queue to send processing jobs to") parser.add_option("", "--dry", dest="dry", action='store_true', default=False, help="If provided, nothing actually gets run, just a dry run") parser.add_option("-d", "--dir", dest="dir", type='string', default="", help="If provided, this is the root where files are read and written") parser.add_option("-q", "--farm", dest="farmQueue", type="string", default=None, help="Farm queue to send processing jobs to") (OPTIONS, args) = parser.parse_args() if len(args) != 1: parser.error("incorrect number of arguments") stage = args[0] for callTarget in targets: target = callTarget.name listFile = os.path.join("lists", target + ".list") unfilteredVCF = os.path.join(OPTIONS.dir, target + '.gatk.ug.vcf') filteredVCF = os.path.join(OPTIONS.dir, target + '.gatk.ug.filtered.vcf') tmpdir = os.path.join(OPTIONS.dir, "intermediates", unfilteredVCF + ".scatter") if not os.path.exists(tmpdir): os.makedirs(tmpdir) if stage == 'CALL': callSNPs(target, callTarget, listFile, tmpdir) if stage == 'MERGE': mergeSNPs(target, unfilteredVCF, tmpdir) if stage == 'FILTER': filterSNPs(target, callTarget.depth, unfilteredVCF, filteredVCF) if stage == 'UNION': unionSNPs(callTarget, filteredVCF ) if stage == 'RELEASE': dir = '/humgen/gsa-scr1/pub/1000GenomesPilot2' subdir = '1000GenomesPilot2SNPs_GATK_glftrio_' + date.today().strftime("%m%d%y") releaseSNPs(os.path.join(dir, subdir), callTarget, filteredVCF ) if stage == 'CLEAN': shutil.rmtree("intermediates", True) for file in [filteredVCF, unfilteredVCF]: if os.path.exists(file): os.remove(file) if stage == 'EVAL': evalSNPs(callTarget, unfilteredVCF, filteredVCF) GATK_STABLE = 'java -ea -Xmx4096m -jar /home/radon01/depristo/dev/GenomeAnalysisTKStable/trunk/dist/GenomeAnalysisTK.jar -l INFO -R /broad/1KG/reference/human_b36_both.fasta ' GATK_DEV = 'java -ea -Xmx4096m -jar /home/radon01/depristo/dev/GenomeAnalysisTK/trunk/dist/GenomeAnalysisTK.jar -l INFO -R /broad/1KG/reference/human_b36_both.fasta ' GATK = GATK_DEV def callSNPs(target, callTarget, listFile, tmpdir): cmd = "python ./runmeCalls.py -q %s -N 5 -d %s -I %s /broad/1KG/reference/human_b36_both.fasta.fai -e \"-mmq 10 -mbq 10 -pl SOLID --heterozygosity %e\" -Q %s" % (OPTIONS.farmQueue, tmpdir, listFile, callTarget.hetero, callTarget.minQ) print 'Enqueuing job for', target, callTarget, listFile, tmpdir jobid = farm_commands.cmd(cmd, None, None, just_print_commands = OPTIONS.dry) def mergeSNPs(target, snpFile, tmpdir): cmd = "python ~/dev/GenomeAnalysisTK/trunk/python/mergeVCFs.py -a -f /broad/1KG/reference/human_b36_both.fasta.fai %s/*.vcf > %s" % (tmpdir, snpFile) jobid = farm_commands.cmd(cmd, None, None, just_print_commands = OPTIONS.dry) def filterSNPs(target, depth, unfilteredVCF, filteredVCF): #expression = "AB > 0.75 || DP > %s" % depth expression = "AB > 0.75 || DP > %s || MQ0 > 40 || SB > -0.10" % depth cmd = GATK + '-T VariantFiltration -D /humgen/gsa-scr1/GATK_Data/dbsnp_129_b36.rod -B variant,VCF,%s --clusterWindowSize 10 -o %s --filterExpression "%s"' % (unfilteredVCF, filteredVCF, expression) jobid = farm_commands.cmd(cmd, OPTIONS.farmQueue, None, just_print_commands = OPTIONS.dry) def evalSNPs(callTarget, unfilteredVCF, filteredVCF): def eval1(vcf, namePostfix = "", args = ""): out = os.path.join(OPTIONS.dir, "eval", vcf + namePostfix + ".eval") cmd = GATK + "-T VariantEval -D /humgen/gsa-scr1/GATK_Data/dbsnp_129_b36.rod -B 1kg_ceu,VCF,/humgen/gsa-hpprojects/1kg/1kg_pilot1/SNPCalls/Joint/RC1/CEU.2and3_way.annotated.vcf -B 1kg_yri,VCF,/humgen/gsa-hpprojects/1kg/1kg_pilot1/SNPCalls/Joint/RC1/YRI.2and3_way.annotated.vcf -B eval,VCF,%s -G -A -o %s -L %s" % ( vcf, out, '\;'.join(map(str, range(1,23))) ) hapmap3 = os.path.join("../../hapmap3Genotypes", callTarget.truthGFFName + ".b36.gff") if os.path.exists(hapmap3): cmd += " -B hapmap-chip,GFF,%s %s %s" % (hapmap3, callTarget.variantEvalArgs, args) jobid = farm_commands.cmd(cmd, OPTIONS.farmQueue, None, just_print_commands = OPTIONS.dry) eval1(filteredVCF) eval1(unfilteredVCF) if callTarget.unionVCF != None: eval1(callTarget.unionVCF, ".union") for set in sets: if type(set) == list: name, selector = set else: name, selector = set, set eval1(callTarget.unionVCF, "." + name, " -vcfInfoSelector set=\"" + selector + "\"") def unionSNPs(target, filteredVCF ): if target.otherVCF != None: cmd = GATK + "-T VCFCombine -B GATK,VCF,%s -B glfTrio,VCF,%s -O %s -type UNION -priority GATK,glfTrio -A" % ( filteredVCF, target.otherVCF, target.unionVCF ) jobid = farm_commands.cmd(cmd, OPTIONS.farmQueue, None, just_print_commands = OPTIONS.dry) def releaseSNPs(dir, callTarget, filteredVCF ): if not os.path.exists(dir): os.makedirs(dir) print dir, filteredVCF #shutil.copy(filteredVCF, dir) if callTarget.unionVCF != None: shutil.copy(callTarget.unionVCF, dir) if __name__ == "__main__": main() # java -Xmx4096m -jar /home/radon01/depristo/dev/GenomeAnalysisTK/trunk/dist/GenomeAnalysisTK.jar -T VCFCombine -R /broad/1KG/reference/human_b36_both.fasta -B GATK,VCF,ceu.trio.gatk.ug.filtered.vcf -B glfTrio,VCF,/humgen/gsa-hpprojects/1kg/1kg_pilot2/currentBestProjectCalls/CEU_1kg_pilot2.vcf -O test.vcf -type UNION -priority GATK,glfTrio -l INFO -A # java -ea -Xmx4096m -jar /home/radon01/depristo/dev/GenomeAnalysisTK/trunk/dist/GenomeAnalysisTK.jar -l INFO -R /broad/1KG/reference/human_b36_both.fasta -T VariantEval -D /humgen/gsa-scr1/GATK_Data/dbsnp_129_b36.rod -B eval,VCF,test.vcf -B hapmap-chip,GFF,../../hapmap3Genotypes/NA12878.b36.gff --sampleName NA12878 -vcfInfoSelector set=gatk-filtered # if ( $1 == 3.1 ) then # cat ceu.trio.calls.allTechs.mmq10_mbq10_q200.filtered.vcf | cut -f 1-10 > ceu.trio.calls.allTechs.mmq10_mbq10_q200.NA12878only.filtered.vcf # endif # # if ( $1 == 4 ) then # foreach callset ( NA12878.allTechs.mmq10_mbq10_q200 ceu.trio.calls.allTechs.mmq10_mbq10_q200.NA12878only ) # java -Xmx4096m -jar /home/radon01/depristo/dev/GenomeAnalysisTKStable/trunk/dist/GenomeAnalysisTK.jar -T CallsetConcordance -R /broad/1KG/reference/human_b36_both.fasta -B GATK,VCF,$callset.filtered.vcf -B glfTrio,VCF,CEU_1kg_pilot2.na12878.vcf -CT SimpleVenn -CO ${callset}_v_CEU_1kg_pilot2.filtered.vcf -l INFO # cat ${callset}_v_CEU_1kg_pilot2.filtered.vcf | awk '$1 ~ "#" || $8 ~ "callset2_only"' > ${callset}_v_CEU_1kg_pilot2.filtered.CEU_1kg_pilot2Unique.vcf # cat ${callset}_v_CEU_1kg_pilot2.filtered.vcf | awk '$1 ~ "#" || $8 ~ "callset1_only"' > ${callset}_v_CEU_1kg_pilot2.filtered.${callset}Unique.vcf # cat ${callset}_v_CEU_1kg_pilot2.filtered.vcf | awk '$1 ~ "#" || $8 ~ "concordant"' > ${callset}_v_CEU_1kg_pilot2.filtered.concordant.vcf # end # endif # # if ( $1 == 5 ) then # mkdir /humgen/gsa-scr1/pub/1000Pilot2_010710 # # foreach file ( NA12878.allTechs.mmq10_mbq10_q200.filtered.vcf NA12878.SLX.mmq10_mbq10_q50.filtered.vcf NA12891.calls.mmq10_mbq10_q50.filtered.vcf NA12892.calls.mmq10_mbq10_q50.filtered.vcf ceu.trio.calls.allTechs.mmq10_mbq10_q200.filtered.vcf ) # echo $file # cp $file /humgen/gsa-scr1/pub/1000Pilot2_010710 # end # # endif