Mercurial > repos > mini > strelka
view libexec/callSomaticVariants.pl @ 16:024468e8638c
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author | mini |
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date | Wed, 01 Oct 2014 12:33:46 +0200 |
parents | 0e8e6011082b |
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#!/usr/bin/env perl =head1 LICENSE Strelka Workflow Software Copyright (c) 2009-2013 Illumina, Inc. This software is provided under the terms and conditions of the Illumina Open Source Software License 1. You should have received a copy of the Illumina Open Source Software License 1 along with this program. If not, see <https://github.com/downloads/sequencing/licenses/>. =head1 SYNOPSIS callSomaticVariants.pl [options] | --help =head2 SUMMARY Run the somatic variant caller for snvs and indels on a single chromosome bin. =cut use warnings FATAL => 'all'; use strict; use Carp; $SIG{__DIE__} = \&Carp::confess; use File::Spec; use Getopt::Long; use Pod::Usage; my $baseDir; my $libDir; BEGIN { my $thisDir=(File::Spec->splitpath($0))[1]; $baseDir=File::Spec->catdir($thisDir,File::Spec->updir()); $libDir=File::Spec->catdir($baseDir,'lib'); } use lib $libDir; use Utils; print "all imported call"; if(getAbsPath($baseDir)) { errorX("Can't resolve path for strelka_workflow install directory: '$baseDir'"); } my $libexecDir=File::Spec->catdir($baseDir,'libexec'); my $scriptName=(File::Spec->splitpath($0))[2]; my $argCount=scalar(@ARGV); my $cmdline = join(' ',$0,@ARGV); my ($chrom, $binId, $configFile); my $help; GetOptions( "chrom=s" => \$chrom, "bin=s" => \$binId, "config=s" => \$configFile, "help|h" => \$help) or pod2usage(2); pod2usage(2) if($help); pod2usage(2) unless(defined($chrom)); pod2usage(2) unless(defined($binId)); pod2usage(2) unless(defined($configFile)); # # check all fixed paths (not based on commandline arguments): # checkDir($baseDir); checkDir($libexecDir); my $strelkaBin=File::Spec->catdir($libexecDir,'strelka2'); checkFile($strelkaBin,"strelka binary"); # # read config and validate values # checkFile($configFile,"configuration ini"); my $config = parseConfigIni($configFile); for (qw(knownGenomeSize tumorBam normalBam refFile outDir)) { errorX("Undefined configuration option: '$_'") unless(defined($config->{derived}{$_})); } # we skip maxInputDepth,minTier2Mapq here to allow older config files for (qw(minTier1Mapq isWriteRealignedBam binSize ssnvPrior sindelPrior ssnvNoise sindelNoise ssnvNoiseStrandBiasFrac)) { errorX("Undefined configuration option: '$_'") unless(defined($config->{user}{$_})); } my $outDir = $config->{derived}{outDir}; my $binDir = File::Spec->catdir($outDir,'chromosomes',$chrom,'bins',$binId); checkDir($outDir,"output"); checkDir($binDir,"output bin"); my $tumorBam = $config->{derived}{tumorBam}; my $normalBam = $config->{derived}{normalBam}; my $refFile = $config->{derived}{refFile}; checkFile($tumorBam,"tumor BAM"); checkFile($normalBam,"normal BAM"); checkFile($refFile,"reference"); # pull out some config options for convenience: my $binSize=$config->{user}{binSize}; my $isWriteRealignedBam=$config->{user}{isWriteRealignedBam}; my $knownGenomeSize = $config->{derived}{knownGenomeSize}; my $begin = (int($binId)*$binSize)+1; my $end = ((int($binId)+1)*$binSize); #my $end = $begin+100000; #debug mode my $useroptions = $config->{user}; # set previous default value if an older config file is being used: if(! defined($useroptions->{minTier2Mapq})) { $useroptions->{minTier2Mapq} = 5; } # # setup the strelka command-line: # my $strelka_base_opts= "-clobber" . " -filter-unanchored" . " -min-paired-align-score " . $useroptions->{minTier1Mapq} . " -min-single-align-score 10" . " -min-qscore 0" . " -report-range-begin $begin -report-range-end $end" . " -samtools-reference '$refFile'" . " -max-window-mismatch 3 20 -print-used-allele-counts" . " -bam-seq-name '" . $chrom . "'" . " -genome-size $knownGenomeSize" . " -max-indel-size 50" . " -indel-nonsite-match-prob 0.5" . " --min-contig-open-end-support 35" . " --somatic-snv-rate " . $useroptions->{ssnvPrior} . " --shared-site-error-rate " . $useroptions->{ssnvNoise} . " --shared-site-error-strand-bias-fraction " . $useroptions->{ssnvNoiseStrandBiasFrac} . " --somatic-indel-rate " . $useroptions->{sindelPrior} . " --shared-indel-error-rate " . $useroptions->{sindelNoise} . " --tier2-min-single-align-score " . $useroptions->{minTier2Mapq} . " --tier2-min-paired-align-score " . $useroptions->{minTier2Mapq} . " --tier2-single-align-score-rescue-mode" . " --tier2-mismatch-density-filter-count 10" . " --tier2-no-filter-unanchored" . " --tier2-indel-nonsite-match-prob 0.25" . " --tier2-include-singleton" . " --tier2-include-anomalous"; my $somSnvFile='somatic.snvs.unfiltered.vcf'; my $somIndelFile='somatic.indels.unfiltered.vcf'; my $cmd = "$strelkaBin $strelka_base_opts" . " -bam-file " . $normalBam . " --tumor-bam-file " . $tumorBam . " --somatic-snv-file " . File::Spec->catfile($binDir,$somSnvFile) . " --somatic-indel-file " . File::Spec->catfile($binDir,$somIndelFile) . " --variant-window-flank-file 50 " . File::Spec->catfile($binDir,$somIndelFile . '.window'); sub ualignFile($) { return File::Spec->catfile($binDir,$_[0] . ".unsorted.realigned.bam"); } sub alignFile($) { return File::Spec->catfile($binDir,$_[0] . ".realigned"); } if(exists($useroptions->{maxInputDepth}) && ($useroptions->{maxInputDepth} > 0)) { $cmd .= " --max-input-depth " . $useroptions->{maxInputDepth}; } if($isWriteRealignedBam) { $cmd .= " -realigned-read-file " . ualignFile("normal") . " --tumor-realigned-read-file " . ualignFile("tumor"); } if(defined($useroptions->{extraStrelkaArguments})){ my $arg=$useroptions->{extraStrelkaArguments}; if($arg !~ /^\s*$/) { $cmd .= " " . $arg; } } # this file contains site stats that used to be printed on stdout: # $cmd .= " --report-file " . File::Spec->catfile($binDir,'strelka.stats'); $cmd .= " >| " . File::Spec->catfile($binDir,'strelka.stdout') . " 2>| " . File::Spec->catfile($binDir,'strelka.stderr'); executeCmd($cmd,0); if($isWriteRealignedBam) { for my $label (qw(normal tumor)) { my $ufile = ualignFile($label); if( -f $ufile ) { my $afile = alignFile($label); my $cmd = "samtools sort " . $ufile . " " . $afile; executeCmd($cmd,0); unlink($ufile); } else { logX("Can't find unsorted realigned BAM file: '$ufile'"); } } } 1; __END__