diff --git a/alignment/dnaseqalign.sh b/alignment/dnaseqalign.sh
index 7b9fca4142c1c7125508f1299db82bcfdc36293b..666ba1e53078ed0d9a838ea28ebb3503959dc7af 100644
--- a/alignment/dnaseqalign.sh
+++ b/alignment/dnaseqalign.sh
@@ -46,7 +46,7 @@ fi
testexe='/project/shared/bicf_workflow_ref/seqprg/bin'
source /etc/profile.d/modules.sh
-module load bwakit/0.7.15 samtools/gcc/1.8 picard/2.10.3
+module load python/2.7.x-anaconda bwakit/0.7.15 samtools/gcc/1.8 picard/2.10.3
baseDir="`dirname \"$0\"`"
diff --git a/variants/cnvkit.sh b/variants/cnvkit.sh
index 4d23d7c5067c8607b9a8a75b9974d129f076dad9..8322057a653400904eaf4bf2c8eeb1ecd0e3e7c0 100755
--- a/variants/cnvkit.sh
+++ b/variants/cnvkit.sh
@@ -26,7 +26,7 @@ done
shift $(($OPTIND -1))
-index_path='/project/shared/bicf_workflow_ref/human/GRCh38/clinseq_prj/'
+index_path='/project/shared/bicf_workflow_ref/human/GRCh38/clinseq_prj'
# Check for mandatory options
if [[ -z $pair_id ]] || [[ -z $sbam ]]; then
@@ -38,7 +38,7 @@ then
fi
baseDir="`dirname \"$0\"`"
-if [[ $capture == '${index_path}/UTSWV2.bed' ]]
+if [[ $capture == "${index_path}/UTSWV2.bed" ]]
then
normals="${index_path}/UTSWV2.normals.cnn"
targets="${index_path}/UTSWV2.cnvkit_"
@@ -46,11 +46,11 @@ then
then
normals="${index_path}/UTSWV2.uminormals.cnn"
fi
-elif [[ $capture == '${index_path}/UTSWV2_2.panelplus.bed' ]]
+elif [[ $capture == "${index_path}/UTSWV2_2.panelplus.bed" ]]
then
normals="${index_path}/panelofnormals.panel1385V2_2.cnn"
targets="${index_path}/panel1385V2-2.cnvkit_"
-elif [[ $capture == '${index_path}/hemepanelV3.bed' ]]
+elif [[ $capture == "${index_path}/hemepanelV3.bed" ]]
then
normals="${index_path}/hemepanelV3.flatreference.cnn"
targets="${index_path}/hemepanelV3.cnvkit_"
diff --git a/variants/gatkrunner.sh b/variants/gatkrunner.sh
index f8ba7b6fa732a699e2f126a8f21111bd79e7fce0..bd0e964fd4a65d2ebb9edb0231574495c579cc48 100755
--- a/variants/gatkrunner.sh
+++ b/variants/gatkrunner.sh
@@ -57,11 +57,7 @@ else
fi
source /etc/profile.d/modules.sh
-user=$USER
-module load gatk/4.x singularity/2.6.1 samtools/gcc/1.8
-mkdir /tmp/${user}
-export TMP_HOME=/tmp/${user}
-
+module load gatk/4.1.2.0 samtools/gcc/1.8
samtools index -@ $SLURM_CPUS_ON_NODE ${sbam}
if [[ $algo == 'gatkbam_rna' ]]
@@ -71,14 +67,14 @@ then
java -Xmx4g -jar $PICARD/picard.jar ReorderSam I=${pair_id}.clean.bam O=${pair_id}.sort.bam R=${reffa} CREATE_INDEX=TRUE
java -Xmx4g -jar $PICARD/picard.jar AddOrReplaceReadGroups INPUT=${pair_id}.clean.bam O=${pair_id}.rg_added_sorted.bam SO=coordinate RGID=${pair_id} RGLB=tx RGPL=illumina RGPU=barcode RGSM=${pair_id}
samtools index -@ $SLURM_CPUS_ON_NODE ${pair_id}.rg_added_sorted.bam
- singularity exec -H /tmp/${user} /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk SplitNCigarReads -R ${reffa} -I ${pair_id}.rg_added_sorted.bam -O ${pair_id}.split.bam
- singularity exec -H /tmp/${user} /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" BaseRecalibrator -I ${pair_id}.split.bam --known-sites ${index_path}/dbSnp.gatk4.vcf.gz -R ${reffa} -O ${pair_id}.recal_data.table --use-original-qualities
- singularity exec -H /tmp/${user} /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" ApplyBQSR -I ${pair_id}.split.bam -R ${reffa} -O ${pair_id}.final.bam --use-original-qualities -bqsr ${pair_id}.recal_data.table
+ gatk SplitNCigarReads -R ${reffa} -I ${pair_id}.rg_added_sorted.bam -O ${pair_id}.split.bam
+ gatk --java-options "-Xmx32g" BaseRecalibrator -I ${pair_id}.split.bam --known-sites ${index_path}/dbSnp.gatk4.vcf.gz -R ${reffa} -O ${pair_id}.recal_data.table --use-original-qualities
+ gatk --java-options "-Xmx32g" ApplyBQSR -I ${pair_id}.split.bam -R ${reffa} -O ${pair_id}.final.bam --use-original-qualities -bqsr ${pair_id}.recal_data.table
samtools index -@ $SLURM_CPUS_ON_NODE ${pair_id}.final.bam
elif [[ $algo == 'gatkbam' ]]
then
- singularity exec -H /tmp/${user} /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" BaseRecalibrator -I ${sbam} --known-sites ${index_path}/dbSnp.gatk4.vcf.gz -R ${reffa} -O ${pair_id}.recal_data.table --use-original-qualities
- singularity exec -H /tmp/${user} /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" ApplyBQSR -I ${sbam} -R ${reffa} -O ${pair_id}.final.bam --use-original-qualities -bqsr ${pair_id}.recal_data.table
+ gatk --java-options "-Xmx32g" BaseRecalibrator -I ${sbam} --known-sites ${index_path}/dbSnp.gatk4.vcf.gz -R ${reffa} -O ${pair_id}.recal_data.table --use-original-qualities
+ gatk --java-options "-Xmx32g" ApplyBQSR -I ${sbam} -R ${reffa} -O ${pair_id}.final.bam --use-original-qualities -bqsr ${pair_id}.recal_data.table
samtools index -@ $SLURM_CPUS_ON_NODE ${pair_id}.final.bam
elif [[ $algo == 'abra2' ]]
diff --git a/variants/germline_vc.sh b/variants/germline_vc.sh
index c24e3c37f993696082ac7f20de434da0639328a8..6386e1b83c9ff26baf6d87935408e37e57482ab1 100755
--- a/variants/germline_vc.sh
+++ b/variants/germline_vc.sh
@@ -33,21 +33,21 @@ if [[ -z $SLURM_CPUS_ON_NODE ]]
then
SLURM_CPUS_ON_NODE=1
fi
-if [[ -a "${index_path}/dbSnp.vcf.gz" ]]
+if [[ -s "${index_path}/dbSnp.vcf.gz" ]]
then
dbsnp="${index_path}/dbSnp.vcf.gz"
else
echo "Missing dbSNP File: ${index_path}/dbSnp.vcf.gz"
usage
fi
-if [[ -a "${index_path}/GoldIndels.vcf.gz" ]]
+if [[ -s "${index_path}/GoldIndels.vcf.gz" ]]
then
knownindel="${index_path}/GoldIndels.vcf.gz"
else
echo "Missing InDel File: ${index_path}/GoldIndels.vcf.gz"
usage
fi
-if [[ -a "${index_path}/genome.fa" ]]
+if [[ -s "${index_path}/genome.fa" ]]
then
reffa="${index_path}/genome.fa"
dict="${index_path}/genome.dict"
diff --git a/variants/norm_annot.sh b/variants/norm_annot.sh
index 4f89845c93e6df8258ad7229ac3fc4d7a5b6cc04..4ccd4c2360bbcbfc1ceede436805c81dd59cd2d5 100755
--- a/variants/norm_annot.sh
+++ b/variants/norm_annot.sh
@@ -30,4 +30,4 @@ perl $baseDir\/uniform_vcf_gt.pl $pair_id $vcf
bgzip -f ${pair_id}.uniform.vcf
j=${pair_id}.uniform.vcf.gz
tabix -f $j
-bcftools norm -m - -O z -o ${pair_id}.norm.vcf.gz $j
+bcftools norm -m - -Oz $j -o ${pair_id}.norm.vcf.gz
diff --git a/variants/pindel.sh b/variants/pindel.sh
index 936caff1e619883b6aaafac9cf164934629d6580..b980dc11aa801372eea331c9b063c8b5d8e081e0 100644
--- a/variants/pindel.sh
+++ b/variants/pindel.sh
@@ -56,8 +56,9 @@ done
pindel -T $SLURM_CPUS_ON_NODE -f ${reffa} -i ${pair_id}.pindel.config -o ${pair_id}.pindel_out --RP
pindel2vcf -P ${pair_id}.pindel_out -r ${reffa} -R HG38 -d ${genomefiledate} -v pindel.vcf
cat pindel.vcf | java -jar $SNPEFF_HOME/SnpSift.jar filter " ( GEN[*].AD[1] >= 10 )" | bgzip > pindel.vcf.gz
-perl $baseDir/norm_annot.sh -r ${index_path} -p pindel -v pindel.vcf.gz
-perl $baseDir/parse_pindel.pl ${pair_id} pindel.norm.vcf.gz
-java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.indel.vcf |bgzip > ${pair_id}.pindel_indel.vcf.gz
+perl $baseDir/parse_pindel.pl ${pair_id} pindel.vcf.gz
+java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.indel.vcf |bgzip > indel.vcf.gz
+perl $baseDir/norm_annot.sh -r ${index_path} -p pindel_indel -v indel.vcf.gz
+mv pindel_indel.norm.vcf.gz ${pair_id}.pindel_indel.vcf.gz
java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.dup.vcf |bgzip > ${pair_id}.pindel_tandemdup.vcf.gz
java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.sv.vcf |bgzip > ${pair_id}.pindel_sv.vcf.gz
diff --git a/variants/uni_norm_annot.sh b/variants/uni_norm_annot.sh
new file mode 100644
index 0000000000000000000000000000000000000000..dba02f29f8ffdd1717d49e7f33f8b78caccb15be
--- /dev/null
+++ b/variants/uni_norm_annot.sh
@@ -0,0 +1,38 @@
+#!/bin/bash
+#union.sh
+
+usage() {
+ echo "-h Help documentation for gatkrunner.sh"
+ echo "-r --Reference Genome: GRCh38 or GRCm38"
+ echo "-p --Prefix for output file name"
+ echo "-v --VCF File"
+ echo "Example: bash union.sh -p prefix -r /path/GRCh38"
+ exit 1
+}
+OPTIND=1 # Reset OPTIND
+while getopts :r:p:v:h opt
+do
+ case $opt in
+ r) index_path=$OPTARG;;
+ p) pair_id=$OPTARG;;
+
+ v) vcf=$OPTARG;;
+ h) usage;;
+ esac
+done
+function join_by { local IFS="$1"; shift; echo "$*"; }
+shift $(($OPTIND -1))
+baseDir="`dirname \"$0\"`"
+
+source /etc/profile.d/modules.sh
+module load bedtools/2.26.0 samtools/1.6 bcftools/1.6 snpeff/4.3q
+
+perl $baseDir\/uniform_vcf_gt.pl $pair_id $vcf
+mv ${vcf} ${pair_id}.ori.vcf.gz
+bgzip -f ${pair_id}.uniform.vcf
+j=${pair_id}.uniform.vcf.gz
+tabix -f $j
+bcftools norm -m - -Oz $j -o ${pair_id}.norm.vcf.gz
+bash $baseDir/annotvcf.sh -p ${pair_id} -r $index_path -v ${pair_id}.norm.vcf.gz
+/project/shared/bicf_workflow_ref/seqprg/vt/vt decompose_blocksub ${pair_id}.annot.vcf.gz -p -a -o ${pair_id}.vcf
+bgzip -f ${pair_id}.vcf
diff --git a/variants/unionvcf.pl b/variants/unionvcf.pl
index 37452dc15b6e80403590c96f9e73995eaa509c14..c63fbae307a92537c0eca3500c617f1fdba5034f 100755
--- a/variants/unionvcf.pl
+++ b/variants/unionvcf.pl
@@ -3,6 +3,8 @@
my $headerfile = shift @ARGV;
my @vcffiles = @ARGV;
+my @callers = ('fb','mutect','gatk','platypus','strelka2','shimmer','virmid');
+%algos = map {$_=>1} @callers;
open HEADER, "<$headerfile" or die $!;
open OUT, ">int.vcf" or die $!;
@@ -15,7 +17,11 @@ my @sampleorder;
my %headerlines;
foreach $vcf (@vcffiles) {
- $caller = (split(/\./,$vcf))[-3];
+ my @filename = (split(/\./,$vcf));
+ my $caller;
+ foreach $fio (@filename) {
+ $caller = $fio if ($algos{$fio});
+ }
open VCF, "gunzip -c $vcf|" or die $!;
my @sampleids;
while (my $line = <VCF>) {
@@ -125,19 +131,18 @@ foreach $vcf (@vcffiles) {
my @filts = split(";",$filter);
my %filterqc = map {$_ => 1} @filts;
delete $filterqc{'.'};
- if ($gtfilt{'StrandBias'} || ($hash{FS} && $hash{FS} > 60) ||
- ($hash{SAP} && $hash{SAP} > 20)) {
+ if ($gtfilt{'StrandBias'} || ($hash{FS} && $hash{FS} > 60)) { # ||($hash{SAP} && $hash{SAP} > 20)) {
$filterqc{strandBias} = 1;
- }if (scalar(keys %filterqc) > 1) {
+ $annot .= ';strandBias=1';
+ }if (scalar(keys %filterqc) > 0) {
$filter = join(";",keys %filterqc);
}else {
$filter = '.';
}
- $lines{$chrom}{$pos}{$ref}{$alt}{$caller} = [$chrom,$pos,$id,$ref,$alt,$score,$filter,$annot,$newformat,\@newgts,\@gtdesc];
+ $lines{$chrom}{$pos}{$ref}{$alt}{$caller} = [$chrom,$pos,$id,$ref,$alt,$score,$filter,$annot,$newformat,\@newgts,\@gtdesc] unless $lines{$chrom}{$pos}{$ref}{$alt}{$caller};
}
close VCF;
}
-my @callers = ('fb','mutect','gatk','platypus','strelka2','shimmer','virmid');
F1:foreach $chr (sort {$a cmp $b} keys %lines) {
F2:foreach $pos (sort {$a <=> $b} keys %{$lines{$chr}}) {