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 \"$0\"`" diff --git a/variants/germline_vc.sh b/variants/germline_vc.sh index a714ef7447428fff30ccd9cf4e90c71c089966fc..bdb08492a37f7463155f90d43fd295f14e1c5f28 100755 --- a/variants/germline_vc.sh +++ b/variants/germline_vc.sh @@ -102,8 +102,8 @@ then gvcflist="$gvcflist --variant ${prefix}.gatk.g.vcf" done interval=`cat ${reffa}.fai |cut -f 1 |grep -v decoy |grep -v 'HLA' |grep -v alt |grep -v 'chrUn' |grep -v 'random' |paste -sd "," -` - singularity exec -H /tmp/$user /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" GenomicsDBImport $gvcflist --genomicsdb-workspace-path gendb --intervals $interval - singularity exec -H /tmp/$user /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" GenotypeGVCFs -V gendb://gendb -R ${reffa} -D ${gatk4_dbsnp} -O gatk.vcf + #singularity exec -H /tmp/$user /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" GenomicsDBImport $gvcflist --genomicsdb-workspace-path gendb --intervals $interval + singularity exec -H /tmp/$user /project/apps/singularity-images/gatk4/gatk-4.x.simg /gatk/gatk --java-options "-Xmx32g" GenotypeGVCFs $gvcflist -R ${reffa} -D ${gatk4_dbsnp} -O gatk.vcf bcftools norm -c s -f ${reffa} -w 10 -O v gatk.vcf | vcf-annotate -n --fill-type gatk.vcf | bgzip > ${pair_id}.gatk.vcf.gz tabix ${pair_id}.gatk.vcf.gz elif [[ $algo == 'platypus' ]] 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