#!/bin/bash #PBS -l walltime=06:00:00 #PBS -l ncpus=1,mem=16gb #PBS -q uv2000 #PBS -N run_processing #PBS -j oe # setup PATH export PATH=$PATH:/home/u035/u035/shared/software/bcbio/anaconda/envs/python2/bin:/home/u035/u035/shared/software/bcbio/anaconda/bin export PERL5LIB=$PERL5LIB:/home/u035/u035/shared/software/bcbio/anaconda/lib/site_perl/5.26.2 ### folder structure for the downstream analysis - created by processing_setup.sh ### BASE=/scratch/u035/u035/shared/analysis/wes_pilot WORK_DIR=$BASE/${PROJECT_ID} VCF_DIR=${WORK_DIR}/VCF PED_DIR=${WORK_DIR}/PED LOG_DIR=${WORK_DIR}/LOG G2P_DIR=${WORK_DIR}/G2P VASE_DIR=${WORK_DIR}/VASE COV_DIR=${WORK_DIR}/COV DEC_DIR=${WORK_DIR}/DECIPHER IGV_DIR=${DEC_DIR}/IGV CNV_DIR=${WORK_DIR}/CNV SCRIPTS_DIR=/home/u035/u035/shared/scripts # other files to be used FAMILY_IDS=${WORK_DIR}/FAM_IDs.txt # created by processing_setup.sh CHILD_IDS=${WORK_DIR}/PRO_IDs.txt # created by processing_setup.sh TARGETS=/home/u035/u035/shared/resources/G2P/DDG2P.20190613.plus15bp.merged.bed # OK CLINVAR=/home/u035/u035/shared/resources/G2P/DDG2P.20190613.clinvar.20190902.plus15bp.txt # OK ### TOOLS ### BCFTOOLS=/home/u035/u035/shared/software/bcbio/anaconda/envs/python2/bin/bcftools BGZIP=/home/u035/u035/shared/software/bcbio/anaconda/envs/python2/bin/bgzip TABIX=/home/u035/u035/shared/software/bcbio/anaconda/envs/python2/bin/tabix VT=/home/u035/u035/shared/software/bcbio/anaconda/bin/vt VASE=/home/u035/u035/shared/software/bcbio/anaconda/bin/vase GATK4=/home/u035/u035/shared/software/bcbio/anaconda/bin/gatk GATK3=/home/u035/u035/shared/software/GenomeAnalysisTK-3.8/GenomeAnalysisTK.jar PYTHON2=/home/u035/u035/shared/software/bcbio/anaconda/envs/python2/bin/python2.7 VEP="/home/u035/u035/shared/software/bcbio/anaconda/bin/perl /home/u035/u035/shared/software/bcbio/anaconda/bin/vep" # points to ../share/ensembl-vep-97.3-0/vep REFERENCE_GENOME=/home/u035/u035/shared/software/bcbio/genomes/Hsapiens/hg38/seq/hg38.fa echo "PROJECT_ID = ${PROJECT_ID}" # this the the folder (${BASE}/${PROJECT_ID}) where the downstream analysis will be done echo "SOURCE_DIR = ${SOURCE_DIR}" # the command-line argument SOURCE_DIR is the general path to the source BAM files (VCF and PED already copied) # enable running singletons if [ -z $PBS_ARRAY_INDEX ] then if [ -z $INDEX ] then export PBS_ARRAY_INDEX=1 else export PBS_ARRAY_INDEX=$INDEX fi fi # change to the LOG folder cd ${LOG_DIR} ################################ ##### for each family #### ################################ FAMILY_ID=`head -n ${PBS_ARRAY_INDEX} ${FAMILY_IDS} | tail -n 1` ####################################################################### ### for each proband generate the DECIPHER file ### ### ${VCF_DIR}/${FAMILY_ID}.ready.vcf.gz - the cleaned family VCF ### ### ${VASE_DIR}/${FAMILY_ID}.ready.denovo.vcf - the VASE file ### ####################################################################### echo "Generating the DECIPHER file for PROBAND_ID = ${PROBAND_ID} ..." # first, split the family VCF to individual VCFs # -c1: minimum allele count (INFO/AC) of sites to be printed # split multi-allelic sites (by -m -any) # left-alignment and normalization (by adding the -f) file=${VCF_DIR}/${FAMILY_ID}.ready.vcf.gz echo "splitting $file" for indi in `${BCFTOOLS} query -l $file`; do ${BCFTOOLS} view -c1 -Oz -s $indi -o ${file/.vcf*/.$indi.rough.vcf.gz} $file ${BCFTOOLS} norm -f ${REFERENCE_GENOME} -m -any -Oz -o ${file/.vcf*/.$indi.vcf.gz} ${file/.vcf*/.$indi.rough.vcf.gz} rm ${file/.vcf*/.$indi.rough.vcf.gz} done # VASE file - already split, left-aligned and normalized # call the py scrpit PED_FILE=${PED_DIR}/*_${FAMILY_ID}.ped time ${PYTHON2} ${SCRIPTS_DIR}/generate_DEC_IGV.py ${PED_FILE} ${G2P_DIR}/${FAMILY_ID}_LOG_DIR/${FAMILY_ID}.report.txt \ ${VASE_DIR}/${FAMILY_ID}.ready.denovo.vcf ${VCF_DIR}/${FAMILY_ID} ${DEC_DIR} ${IGV_DIR} ${IGV_DIR}/${FAMILY_ID} ${SOURCE_DIR} echo "" echo "" echo "^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^" echo "DECIPHER analysis of PROBAND_ID = ${PROBAND_ID}: done" echo "^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^" echo "" echo "" rm ${VCF_DIR}/${FAMILY_ID}.clean.vcf ##################################################