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nenufaar.sh
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#!/usr/bin/sh
###########################################################################
######### ###########
######### nenufaar ###########
######### @uthor : JP Villemin jpvillemin<at>gmail.com ###########
######### @uthor : D Baux david.baux<at>inserm.fr ###########
######### Date : 11/08/2016 ###########
######### ###########
###########################################################################
VERSION=2.4.3
TESTED=yes
USAGE="
Program: nenufaar
Version: ${VERSION}
Contact: Villemin Jean-Philippe <[email protected]>
Baux David <[email protected]>
Usage: $(basename "$0") [options] -- program to align sequences, call variant and maybe more...
Example:
sh nenufaar.sh -i=input/runX/
Arguments:
-i, --input_path set the absolute path to input directory (must be created before script execution)
Options:
-h, --help shows this help text
-c, --caller Chooses which GATK variant caller to use: ug: UnifiedGenotyper or hc, HaplotypeCaller default hc
-up, --use_platypus Platypus variant calling - Default behaviour is GATK variant calling, then Platypus and VCF merging using GATK CombineVariants, true/false, default true
-dcov, --downsample_to_coverage GATK option default 1000 - selects the variant caller, HaplotypeCaller if dcov <= 1000, or UnifiedGenotyper - DEPRECATED IN THIS VERSION
-a, --annotator Name of annotator: cava (output to textfile), annovar (output to both text and vcf file), vep, snpeff (both output to VCF), or merge to generate a merged cava/annovar file (hg19), default no annotation
-f, --filter combined with annovar only, filters out variants with MAF > 1% in ExAC, ESP or 1KG, true/false, default false. Warning: does not produce the annotated VCF, only tab delimited file.
-g, --genome Version of genome (assembly), either hg19 or hg38, default hg19
-p, --protocol Protocol used to select sequences: capture/amplicon/wgs, default capture
-o, --output_path Sets the absolute path to output directory (must be created before script execution)
-r, --reference Path to genome fasta reference file
-snp, --snp Sets the absolute path to vcf file for dbSNP
-indel1, --indel1 Sets the absolute path to vcf file for indels reference (1000G_phase1.indels or Mills_and_1000G_gold_standard)
-indel2, --indel2 Sets the absolute path to vcf file for indels reference (1000G_phase1.indels or Mills_and_1000G_gold_standard)
-hsm, --hsmetrics Boolean true,false: Asks for Picard HsMetrics calculation: necessitates a Picard.intervals.list (target picard file) file at the root of the run folder, default false - can also take a baits interval file named Picard.baits.intervals.list
-b, --bam_only Only generates BAM files
-vc --variant_calling_only Processes variant calling from a single BAM
-id, --processus_id defines a non-random processus id
-l, --gene_list path to a txt file with a #NAME and a list of genes to be marked in a annovar file
-cu, --clean_up Boolean true, false: set to false to keep intermediate files (for dev purpose)
-log, --log-file Path to log file
-cf, --config-file Provide a config file path, e.g. for containers
Docs:
http://bio-bwa.sourceforge.net/bwa.shtml
http://www.htslib.org/doc/samtools-1.2.html
http://broadinstitute.github.io/picard/command-line-overview.html
https://www.broadinstitute.org/gatk/guide/best-practices?bpm=DNAseq
https://www.broadinstitute.org/gatk/guide/tooldocs/org_broadinstitute_gatk_engine_CommandLineGATK.php#--downsample_to_coverage
http://www.well.ox.ac.uk/cava
http://annovar.openbioinformatics.org/en/latest/
https://github.com/lindenb/jvarkit
Directories Arborescence:
# <my run folder>
# |
# <Intervals.list>
# |
# <Picard.intervals.list> #optionnal, mandatory if -hsm=true
# |
# <sample_1>
# | |
# | |
# | <sample_1.R1.fastq.gz>
# | |
# | <sample_1.R2.fastq.gz>
# | |
# |
# <sample_2>
# | |
# | |
# | <sample_2.R1.fastq.gz>
# | |
# | <sample_2.R2.fastq.gz>
# |
# |
# <etc> ....
Interval list files are mandatory
Format:
chr:start-stop
Example:
chr1:124522-124985
#tested
sh nenufaar.sh -i input/MiniFastqTest/ -hsm true -up false -p wgs
sh nenufaar.sh -i input/MiniFastqTest/ -hsm true -up false -p capture
sh nenufaar.sh -i input/MiniFastqTest/ -hsm true -up false -p amplicon
"
############## If no options are given, print help message #################################
if [ "$#" -eq 0 ]; then
echo "${USAGE}"
echo "Error Message : No arguments provided"
echo ""
exit 1
fi
############### Get options from conf file #################################
CONFIG_FILE=nenufaar.conf
#we check params against regexp
if [ -e "${CONFIG_FILE}" ];then
UNKNOWN=$(cat ${CONFIG_FILE} | grep -Evi "^(#.*|[A-Z0-9_]*=[a-z0-9_ :\.\/\$\{\}\(\)\"=-]*|echo[ \"#a-zA-Z_:\$\{\}]*|export[ a-zA-Z0-9_:\/\.=\$\{\}-]*)$")
if [ -n "${UNKNOWN}" ]; then
echo "Error in config file. Not allowed lines:"
echo "${UNKNOWN}"
exit 1
fi
source ./${CONFIG_FILE}
echo ""
echo "#############################################################################################"
echo "Config File ${CONFIG_FILE} successfully loaded - `date`"
echo "##############################################################################################"
else
EXTERNAL_CONFIG="true"
fi
############## Is the version suitable?
if [ "${TESTED}" == 'yes' ];then
echo ""
echo "#############################################################################################"
echo "This version has been properly tested - you can use it quite safely"
echo "##############################################################################################"
else
echo ""
echo "#############################################################################################"
echo "This development version has not been properly tested - you can use it at your own risk"
echo "##############################################################################################"
fi
############### Get arguments from command line #################################
while [[ "$#" -gt 0 ]]
do
KEY="$1"
case "${KEY}" in
-i|--input) #mandatory
INPUT_PATH="$2"
shift
;;
-o|--output)
OUTPUT_PATH="$2"
shift
;;
-r|--reference)
REF_PATH="$2"
shift
;;
-snp|--snp)
SNP_PATH="$2"
shift
;;
-indel1|--indel1)
INDEL1="$2"
shift
;;
-indel2|--indel2)
INDEL2="$2"
shift
;;
-dcov|--downsample-to-coverage)
DCOV="$2"
shift
;;
-g|--genome) #default hg19
GENOME="$2"
shift
;;
-c|--caller) #default HC
CALLER="$2"
shift
;;
-p|--protocol) #default capture
PROTOCOL="$2"
shift
;;
-hsm|--hsmetrics) #default false
HSMETRICS="$2"
shift
;;
-a|--annotator)
ANNOTATOR="$2"
shift
;;
-f|--filter) #default false
FILTER="$2"
shift
;;
-up|--use_platypus) #default true
USE_PLATYPUS="$2"
shift
;;
-b|--bam_only) #default false
BAM_ONLY="true"
shift
;;
-vc|--variant_calling_only) #default false
VC_ONLY="true"
shift
;;
-id|--processus_id)
ID="$2"
shift
;;
-l|--gene_list)
LIST="$2"
shift
;;
-cu|--clean_up) #default true
CLEAN_UP="$2"
shift
;;
-log|--log-file)
LOG_FILE="$2"
shift
;;
-cf|--config-file)
CONFIG_FILE="$2"
shift
;;
-h|--help)
echo "${USAGE}"
exit 1
;;
*)
echo "Error Message : Unknown option ${KEY}" # unknown option
exit
;;
esac
shift
done
####### get new config file
if [ "${EXTERNAL_CONFIG}" == 'true' ];then
if [ -e "${CONFIG_FILE}" ];then
UNKNOWN=$(cat ${CONFIG_FILE} | grep -Evi "^(#.*|[A-Z0-9_]*=[a-z0-9_ :\.\/\$\{\}\(\)\"=-]*|echo[ \"#a-zA-Z_:\$\{\}]*|export[ a-zA-Z0-9_:\/\.=\$\{\}-]*)$")
if [ -n "${UNKNOWN}" ];then
echo "Error in config file. Not allowed lines:"
echo "${UNKNOWN}"
exit 1
fi
source ./${CONFIG_FILE}
echo ""
echo "#############################################################################################"
echo "External Config File ${CONFIG_FILE} successfully loaded - `date`"
echo "##############################################################################################"
else
echo "${USAGE}"
echo "Error Message : External Config file not found at ${CONFIG_FILE}"
echo ""
exit 1
fi
fi
#remove / if needed in INPUT_PATH
#if [[ "${INPUT_PATH}" =~ .+\/\/$ ]];then
#echo `expr "${INPUT_PATH}" : '\(.*\/\)'`
#INPUT_PATH="${INPUT_PATH_TMP}"
#INPUT_PATH="${INPUT_PATH::-1}" this one works
#fi
######## add / to INPUT_PATH/OUTPUT_PATH if needed
if [[ "${INPUT_PATH}" =~ .+[^\/]$ ]];then
INPUT_PATH="${INPUT_PATH}/"
fi
if [[ "${OUTPUT_PATH}" =~ .+[^\/]$ ]];then
OUTPUT_PATH="${OUTPUT_PATH}/"
fi
######## change assembly if necessary ########
if [ "${GENOME}" == 'hg38' ]; then
REF_PATH='refData/genome/hg38/hg38.fa'
SNP_PATH='refData/dbSNP/144_hg38/dbsnp_144.hg38.vcf.gz'
INDEL1='refData/indelReference/hg38/Mills_and_1000G_gold_standard.indels.hg38.vcf.gz'
INDEL2='refData/indelReference/hg38/Homo_sapiens_assembly38.known_indels.vcf.gz'
fi
######### Test mandatory arguments setting #########
if [ -z "${INDEL1}" ] || [ -z "${INDEL2}" ] || [ -z "${INPUT_PATH}" ] || [ -z "${OUTPUT_PATH}" ] || [ -z "${SNP_PATH}" ] || [ -z "${REF_PATH}" ]; then
echo 'Error Message : Mandatory path missing -> see help (-h)'
exit 1
fi
if [ "${ANNOTATOR}" != 0 ] && [ ! -e "${ANNOTATION_SCRIPT}" ]; then
echo "#############################################################################################"
echo "WARNING : VariantAnnotation - Script ${ANNOTATION_SCRIPT} for ${ANNOTATOR} not found!!!!! - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME} - Please check your -a option"
echo "#############################################################################################"
exit 1
fi
if [ "${ANNOTATOR}" != 'annovar' ] && [ "${FILTER}" != 'false' ]; then
echo 'INVALID ANNOTATOR/FILTER COMBINATION -> see help (-h)' && exit 1;
fi
#if [ "${ANNOTATOR}" != 'annovar' ] && [ "${LIST}" != '' ]; then
if [ "${ANNOTATOR}" == 'cava' ] && [ "${LIST}" != '' ]; then
echo 'INVALID ANNOTATOR/MARK GENES COMBINATION -> see help (-h)' && exit 1;
fi
if [ "${LIST}" != '' ] && [ ! -e "${LIST}" ]; then
echo 'GENE LIST FILE ${LIST} DOES NOT EXIST -> see help (-h)' && exit 1;
fi
if [ "${LIST}" != '' ]; then
LIST="-l ${LIST}"
fi
if [ -z "${JAVA7}" ] || [ -z "${JAVA}" ] || [ -z "${LD_LIBRARY_PATH}" ] || [ -z "${PYTHON}" ] || [ -z "${PERL}" ] || [ -z "${BASH}" ]|| [ -z "${PERL}" ] || [ -z "${AWK}" ] || [ -z "${SORT}" ] || [ -z "${BWA}" ] || [ -z "${FASTQC}" ] || [ -z "${SAMTOOLS}" ] || [ -z "${PICARD}" ] || [ -z "${GATK}" ] || [ -z "${PLATYPUS}" ] || [ -z "${ANNOTATION_SCRIPT}" ] || [ -z "${VCF_POLYX}" ] || [ -z "${QUEUE}" ] || [ -z "${SAMBAMBA}" ] || [ -z "${HTSLIB}" ] || [ -z "${BEDTOOLS}" ] || [ -z "${IURC_VCF_AB}" ]; then
echo 'Error Message : Mandatory software missing -> see help (-h) or conf file'
exit 1
fi
if [ -z "${GENOME}" ] || [ -z "${WGS}" ] || [ -z "${DCOV}" ] || [ -z "${ANNOTATOR}" ] || [ -z "${PROTOCOL}" ] || [ -z "${CALLER}" ] || [ -z "${IP}" ] || [ -z "${STAND_EMIT_CONF}" ] || [ -z "${STAND_CALL_CONF}" ] || [ -z "${DP_THRESHOLD}" ] || [ -z "${BAM_ONLY}" ] || [ -z "${VC_ONLY}" ] || [ -z "${BEDTOOLS_LOW_COVERAGE}" ] || [ -z "${BEDTOOLS_SMALL_INTERVALS}" ] || [ -z "${NB_THREAD}" ] || [ -z "${NB_NODES}" ] || [ -z "${MAX_RAM}" ] || [ -z "${MAX_RAM_GATK_SINGLE}" ] || [ -z "${PICARD_RAM}" ]; then
echo 'Error Message : Mandatory option missing -> see help (-h) or conf file'
exit 1
fi
### got from http://stackoverflow.com/questions/8063228/how-do-i-check-if-a-variable-exists-in-a-list-in-bash
validate_caller() { echo "ug hc" | grep -F -q -w "$1"; }
if [[ "${CALLER}" != 0 ]]; then
validate_caller "${CALLER}" && echo "VALID CALLER OPTION = ${CALLER}" || { echo "INVALID CALLER OPTION = ${CALLER} - EXITING" && exit 1; }
fi
validate_protocol() { echo "amplicon capture wgs" | grep -F -q -w "$1"; }
if [ "${PROTOCOL}" != "capture" ]; then
validate_protocol "${PROTOCOL}" && echo "VALID PROTOCOL OPTION = ${PROTOCOL}" || { echo "INVALID PROTOCOL OPTION = ${PROTOCOL} - EXITING" && exit 1; }
fi
validate_boolean() { echo "true false" | grep -F -q -w "$1"; }
#FILTER=false#USE_PLATYPUS=true#CLEAN_UP=true#HSMETRICS=false; these booleans may take false values (user input)
validate_boolean "${FILTER}" && echo "VALID FILTER OPTION = ${FILTER}" || { echo "INVALID FILTER OPTION = ${FILTER} - EXITING" && exit 1; }
validate_boolean "${USE_PLATYPUS}" && echo "VALID USE_PLATYPUS OPTION = ${USE_PLATYPUS}" || { echo "INVALID USE_PLATYPUS OPTION = ${USE_PLATYPUS} - EXITING" && exit 1; }
validate_boolean "${CLEAN_UP}" && echo "VALID CLEAN_UP OPTION = ${CLEAN_UP}" || { echo "INVALID CLEAN_UP OPTION = ${CLEAN_UP} - EXITING" && exit 1; }
validate_boolean "${HSMETRICS}" && echo "VALID HSMETRICS OPTION = ${HSMETRICS}" || { echo "INVALID HSMETRICS OPTION = ${HSMETRICS} - EXITING" && exit 1; }
if [[ "${DCOV}" =~ ^[0-9]+$ ]]; then
echo "VALID DCOV OPTION = ${DCOV}"
else
echo "INVALID DCOV OPTION = ${DCOV} -> see help (-h) - EXITING"
exit 1
fi
###########################################################################
################## Functions Declaration #######################
###########################################################################
#https://wikis.utexas.edu/display/bioiteam/Example+BWA+alignment+script
# general function that exits after printing its text argument
# in a standard format which can be easily grep'd.
err() {
echo "[$(basename "$0")]...The script has terminated unexpectedly $1";
echo "[$(basename "$0")]...The script has terminated unexpectedly $1";
exit 1 # any non-0 exit code signals an error
}
# function to check return code of programs.
# exits with standard message if code is non-zero;
# otherwise displays completiong message and date.
# arg 1 is the return code (usually $?)
# arg2 is text describing what ran
ckRes() {
if [ "$1" == "0" ]; then
echo "[$(basename "$0")]...Done - $2 - $(date)";
else
err "[$(basename "$0")]...$2 returned non-0 exit code $1"
fi
}
# function that checks if a file exists
# arg 1 is the file name
# arg2 is text describing the file (optional)
ckFile() {
if [ ! -e "$1" ]; then
err "[$(basename "$0")]...$2 File '$1' not found"
fi
}
#function that checks if a file exists and
#that it has non-0 length. needed because
#programs don't always return non-0 return
#codes, and worse, they also create their
#output file with 0 length so that just
#checking for its existence is not enough
#to ensure the program ran properly
ckFileSz() {
ckFile $1 $2;
SZ=$(ls -l $1 | awk '{print $5}');
if [ "$SZ" == "0" ]; then
err "[$(basename "$0")]...$2 File '$1' is zero length"
fi
}
###########################################################################
###########################################################################
###########################################################################
RUN_BASEDIR_NAME=$(basename "${INPUT_PATH}")
echo "BASE NAME RUN DIR : ${RUN_BASEDIR_NAME}"
if [ ${#LOG_FILE} -eq 0 ];then
LOG_FILE="${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${RUN_BASEDIR_NAME}_${ID}.log"
fi
echo ""
echo "#############################################################################################"
echo "Nenufaar ${VERSION} will be launched. tail -f ${LOG_FILE} for detailed information. "
echo "#############################################################################################"
if [ ! -d "${OUTPUT_PATH}${RUN_BASEDIR_NAME}" ];then
mkdir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}
chmod 775 ${OUTPUT_PATH}${RUN_BASEDIR_NAME}
fi
touch ${LOG_FILE}
exec &>${LOG_FILE}
echo "nenufaar ${VERSION}"
echo "CALLER : ${CALLER}"
echo "USE 2ND CALLER: ${USE_PLATYPUS}"
echo "PROTOCOL : ${PROTOCOL}"
echo "ANNOTATOR : ${ANNOTATOR}"
echo "GENOME : ${GENOME}"
echo "DCOV : ${DCOV}"
echo "HSMETRICS : ${HSMETRICS}"
echo "FILTER : ${FILTER}"
echo "BAM_ONLY : ${BAM_ONLY}"
echo "VC_ONLY : ${VC_ONLY}"
echo "GENE LIST: ${LIST}"
echo "INPUT PATH : ${INPUT_PATH}"
echo "OUTPUT PATH : ${OUTPUT_PATH}"
echo "REFERENCE ABSOLUTE PATH NAME OF GENOME : ${REF_PATH}"
ckFileSz ${REF_PATH}
echo "REFERENCE ABSOLUTE PATH NAME OF DBSNP : ${SNP_PATH}"
ckFileSz ${SNP_PATH}
echo "REFERENCE ABSOLUTE PATH NAME OF INDEL1 : ${INDEL1}"
ckFileSz ${INDEL1}
echo "REFERENCE ABSOLUTE PATH NAME OF INDEL2 : ${INDEL2}"
ckFileSz ${INDEL2}
echo "CLEAN INTERMEDIATE FILES : ${CLEAN_UP}"
echo "SRUN_SIMPLE_COMMAND : ${SRUN_SIMPLE_COMMAND}"
echo "SRUN_24_COMMAND : ${SRUN_24_COMMAND}"
echo "BWA_VERSION : ${BWA_VERSION}"
echo "FASTQC_VERSION : ${FASTQC_VERSION}"
echo "SAMTOOLS_VERSION : ${SAMTOOLS_VERSION}"
echo "PICARD_VERSION : ${PICARD_VERSION}"
echo "GATK_VERSION : ${GATK_VERSION}"
echo "PLATYPUS_VERSION : ${PLATYPUS_VERSION}"
echo "ANNOTATION_VERSION : ${ANNOTATION_VERSION}"
echo "JVARKIT_VERSION : ${JVARKIT_VERSION}"
echo "QUEUE_VERSION : ${QUEUE_VERSION}"
echo "SAMBAMBA_VERSION : ${SAMBAMBA_VERSION}"
echo "Your analyze ID is : ${ID}"
DATE1=$(date +"%s")
#export LD_LIBRARY_PATH=/cm/shared/apps/drmaa/gcc/64/1.0.7/lib/:${LD_LIBRARY_PATH}
#echo "#############################################################################################"
#echo "LD_LIBRARY_PATH to use lib_drmaa for queue: ${LD_LIBRARY_PATH}"
#echo "#############################################################################################"
INTERVALS_FILE=${INPUT_PATH}Intervals.list
ckFileSz "${INTERVALS_FILE}"
echo "INTERVALS_FILE : ${INTERVALS_FILE}"
INTERVALS_FILE_OPTION="-L ${INTERVALS_FILE}"
#Platypus needs .txt extension for intervals files
if [ "${USE_PLATYPUS}" == 'true' ];then
PLATYPUS_INTERVALS=${INPUT_PATH}Intervals.txt
cp ${INTERVALS_FILE} ${PLATYPUS_INTERVALS}
ckFileSz "${PLATYPUS_INTERVALS}"
echo "PLATYPUS_INTERVALS : ${PLATYPUS_INTERVALS}"
fi
#if [ "${#QUALIMAP}" -ne 0 ];then
#creates BED file from Intervals if does not exists
if [[ ! -s ${INPUT_PATH}Intervals.bed ]];then
${AWK} 'BEGIN { FS="[:-]";OFS="\t"} {print $1,$2-1,$3,"region","0","+"}' ${INPUT_PATH}Intervals.list > ${INPUT_PATH}Intervals.bed
fi
${SORT} -k1,1 -k2,2n -k3,3n ${INPUT_PATH}Intervals.bed > ${INPUT_PATH}Intervals.sorted.bed
rm ${INPUT_PATH}Intervals.bed
mv ${INPUT_PATH}Intervals.sorted.bed ${INPUT_PATH}Intervals.bed
INTERVALS_BED=${INPUT_PATH}Intervals.bed
ckFileSz "${INTERVALS_BED}"
echo "INTERVALS_BED : ${INTERVALS_BED}"
if [ "${HSMETRICS}" == 'true' ];then
PICARD_INTERVALS_FILE=${INPUT_PATH}Picard.intervals.list
if [ -e ${INPUT_PATH}Picard.baits.intervals.list ];then
PICARD_BAIT_INTERVALS_FILE=${INPUT_PATH}Picard.baits.intervals.list
else
PICARD_BAIT_INTERVALS_FILE=${PICARD_INTERVALS_FILE}
fi
echo "PICARD_INTERVALS_FILE : ${PICARD_INTERVALS_FILE}"
echo "PICARD_BAIT_INTERVALS_FILE : ${PICARD_BAIT_INTERVALS_FILE}"
ckFileSz "${PICARD_INTERVALS_FILE}"
fi
# Récupérer le nom des échantillons
SAMPLES_DIR_PATH_LIST=$(find ${INPUT_PATH} -mindepth 1 -maxdepth 1 -type d)
echo "ALL SAMPLES DIR PATH : ${SAMPLES_DIR_PATH_LIST[@]}"
#used in VC only mode
SEMAPH=0
MULTISAMPLE=''
TOTAL_SAMPLES=$((${#SAMPLES_DIR_PATH_LIST[@]}+1))
echo "TOTAL SAMPLES TO ANALYSE : ${TOTAL_SAMPLES}"
################## FOR TESTING PURPOSE REMOVE WHEN DONE AND CHANGE CONF FILE
#GATK=software/GenomeAnalysisTK/3.5.0/GenomeAnalysisTK.jar
#QUEUE=software/Queue/3.5/Queue.jar
################# END TESTING PURPOSE
for CURRENT_SAMPLE_DIR_PATH in ${SAMPLES_DIR_PATH_LIST[@]}
do
if [ "${SEMAPH}" -eq '0' ];then
echo "PATH TO THE CURRENT SAMPLE : ${CURRENT_SAMPLE_DIR_PATH}"
CURRENT_SAMPLE_BASEDIR_NAME=$(basename "${CURRENT_SAMPLE_DIR_PATH}")
echo "BASENAME CURRENT SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
#ony in standard and bam_only mode
if [ "${VC_ONLY}" == 'false' ];then
SAMPLES_FILE_LIST=(${CURRENT_SAMPLE_DIR_PATH}/*.fastq.gz)
echo "SAMPLES_FILE_LIST : ${SAMPLES_FILE_LIST[@]}"
for CURRENT_SAMPLE_FILE_PATH in "${SAMPLES_FILE_LIST[@]}"; do
echo "PATH TO FASTQ : ${CURRENT_SAMPLE_FILE_PATH}"
ckFileSz "${CURRENT_SAMPLE_FILE_PATH}"
CURRENT_SAMPLE_FILE_NAME=$(basename "${CURRENT_SAMPLE_FILE_PATH}")
echo "FASTQ FILE : ${CURRENT_SAMPLE_FILE_NAME}"
done
if [ "${#SAMPLES_FILE_LIST[@]}" -gt '2' ]; then
err "[$(basename "$0")]...Only two files should be in the input Run directory Sample.R1.fq.gz & Sample.R2.fq.gz";
fi
echo "#############################################################################################"
echo "FastQC : Quality Control - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${FASTQC} --threads ${NB_THREAD} -d ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC/tmp ${SAMPLES_FILE_LIST[@]} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC"
echo "#############################################################################################"
# Fastqc to Unaligned Bam
mkdir -p ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC
mkdir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC/tmp
chmod 777 ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC/tmp
${SRUN_24_COMMAND} ${FASTQC} --threads ${NB_THREAD} -d ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC/tmp ${SAMPLES_FILE_LIST[@]} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC
echo "#############################################################################################"
echo "BWA Alignment : MEM & SAMTOOLS Sort - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${BWA} mem -M -t ${NB_THREAD} -R \"@RG\tID:${CURRENT_SAMPLE_BASEDIR_NAME}\tSM:${CURRENT_SAMPLE_BASEDIR_NAME}\tPL:ILLUMINA\" ${REF_PATH} ${SAMPLES_FILE_LIST[@]} > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.uncompressed.bam"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${BWA} mem -M -t ${NB_THREAD} -R "@RG\tID:${CURRENT_SAMPLE_BASEDIR_NAME}\tSM:${CURRENT_SAMPLE_BASEDIR_NAME}\tPL:ILLUMINA" ${REF_PATH} ${SAMPLES_FILE_LIST[@]} | ${SAMTOOLS} sort -@ ${NB_THREAD} -l 1 -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam
ckRes $? "BWA Alignment & Samtools sort ";
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam"
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam
#echo "#############################################################################################"
#echo "BWA Alignment : MEM - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
#echo "COMMAND: ${SRUN_24_COMMAND} ${BWA} mem -M -t ${NB_THREAD} -R \"@RG\tID:${CURRENT_SAMPLE_BASEDIR_NAME}\tSM:${CURRENT_SAMPLE_BASEDIR_NAME}\tPL:ILLUMINA\" ${REF_PATH} ${SAMPLES_FILE_LIST[@]} > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.uncompressed.bam"
#echo "#############################################################################################"
#
#${SRUN_24_COMMAND} ${BWA} mem -M -t ${NB_THREAD} -R "@RG\tID:${CURRENT_SAMPLE_BASEDIR_NAME}\tSM:${CURRENT_SAMPLE_BASEDIR_NAME}\tPL:ILLUMINA" ${REF_PATH} ${SAMPLES_FILE_LIST[@]} > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.uncompressed.bam
#
#ckRes $? "BWA Alignment ";
#ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.uncompressed.bam"
#BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.uncompressed.bam
#
#echo "#############################################################################################"
#echo "SAMTOOLS Sort : Sort uncompressed Bam - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
#echo "COMMAND: ${SRUN_24_COMMAND} ${SAMTOOLS} sort -@ ${NB_THREAD} -l 1 -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam ${BAM}"
#echo "#############################################################################################"
#
#${SRUN_24_COMMAND} ${SAMTOOLS} sort -@ ${NB_THREAD} -l 1 -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam ${BAM}
#ckRes $? "samtools sort ";
#ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam"
#BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam
#####markdup si capture- sinon index bam
if [ "${PROTOCOL}" == 'capture' ]; then
echo "#############################################################################################"
echo "SAMBAMBA : Markdup & Index - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${SAMBAMBA} markdup -t ${NB_THREAD} --tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_SAMBAMBA -l 1 ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${SAMBAMBA} markdup -t ${NB_THREAD} --tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_SAMBAMBA -l 1 ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam
# if [ "$?" -ne 0 ];then
# echo "sambamba state -$?-";exit;
# elif [ ! -e "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam" ]; then
# echo "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam";exit;
# fi
if [ "$?" -ne 0 ] || [ ! -e "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam" ]; then
#if SAMBAMBA fails (arrived once SU4382 aug 2016, A921 30/09/2016), launches PICARD
#echo "sambamba state -$?-";exit;
echo "#############################################################################################"
echo "SAMBAMBA FAILED, LAUNCHING PICARD : Markdup - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Xmx${PICARD_RAM}g ${PICARD} MarkDuplicates INPUT=${BAM} OUTPUT=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam METRICS_FILE=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD/dupMarked.metrics REMOVE_DUPLICATES=${DUPLICATES} ASSUME_SORTED=true VALIDATION_STRINGENCY=LENIENT CREATE_INDEX=true COMPRESSION_LEVEL=5 TMP_DIR=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD"
echo "#############################################################################################"
${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Xmx${PICARD_RAM}g ${PICARD} MarkDuplicates INPUT=${BAM} OUTPUT=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam METRICS_FILE=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD/dupMarked.tsv REMOVE_DUPLICATES=${DUPLICATES} ASSUME_SORTED=true VALIDATION_STRINGENCY=LENIENT CREATE_INDEX=true COMPRESSION_LEVEL=5 TMP_DIR=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD
echo "#############################################################################################"
echo "SAMBAMBA INDEXING PICARD : Index - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${SAMBAMBA} index -t ${NB_THREAD} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${SAMBAMBA} index -t ${NB_THREAD} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam
fi
ckRes $? "Sambamba Markdup & Index "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam"
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam.bai"
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam.bai ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bai
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam
else
echo "#############################################################################################"
echo "SAMBAMBA Index : Create Bam Index - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${SAMBAMBA} index -t ${NB_THREAD} ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bai"
echo "#############################################################################################"
mv ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam
${SRUN_24_COMMAND} ${SAMBAMBA} index -t ${NB_THREAD} ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bai
ckRes $? "Sambamba Index "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bai"
fi
#BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam
echo "#############################################################################################"
echo "SAMBAMBA Ouputing FlagStat - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${SAMBAMBA} flagstat -t${NB_THREAD} ${BAM} > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_stats.txt"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${SAMBAMBA} flagstat -t${NB_THREAD} ${BAM} > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_stats.txt
echo "#############################################################################################"
echo "BEDTOOLS & AWK Calculate poorly covered regions - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_SIMPLE_COMMAND} ${BEDTOOLS} genomecov -ibam ${BAM} -bga | ${AWK} -v low_coverage=\"${BEDTOOLS_LOW_COVERAGE}\" '\$4<low_coverage' | ${BEDTOOLS} intersect -a ${INTERVALS_BED} -b - | ${SORT} -k1,1 -k2,2n -k3,3n | ${BEDTOOLS} merge -c 4 -o distinct -i - | ${AWK} -v small_intervall=\"${BEDTOOLS_SMALL_INTERVALS}\" 'BEGIN {OFS=\"\t\";print \"#chr\tstart\tend\tregion\tsize\ttype\tUCSC link\"} {a=(\$3-\$2+1);if(a<small_intervall) {b=\"SMALL_INTERVAL\"} else {b=\"OTHER\"};url=\"http://genome-euro.ucsc.edu/cgi-bin/hgTracks?db=${GENOME}&position=\"$1\":\"$2-10\"-\"$3+10\"&highlight=${GENOME}.\"$1\":\"$2\"-\"$3;print \$0, a, b, url}' > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_poor_coverage.txt"
echo "#############################################################################################"
${SRUN_SIMPLE_COMMAND} ${BEDTOOLS} genomecov -ibam ${BAM} -bga | ${AWK} -v low_coverage="${BEDTOOLS_LOW_COVERAGE}" '$4<low_coverage' | ${BEDTOOLS} intersect -a ${INTERVALS_BED} -b - | ${SORT} -k1,1 -k2,2n -k3,3n | ${BEDTOOLS} merge -c 4 -o distinct -i - | ${AWK} -v small_intervall="${BEDTOOLS_SMALL_INTERVALS}" 'BEGIN {OFS="\t";print "#chr\tstart\tend\tregion\tsize (bp)\ttype\tUCSC link"} {a=($3-$2+1);if(a<small_intervall) {b="SMALL_INTERVAL"} else {b="OTHER"};url="http://genome-euro.ucsc.edu/cgi-bin/hgTracks?db='${GENOME}'&position="$1":"$2-10"-"$3+10"&highlight='${GENOME}'."$1":"$2"-"$3;print $0, a, b, url}' > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_poor_coverage.txt
#takes ~2 minutes on 1,2G bam and 10 minutes on 7,7G bam
if [ "${PROTOCOL}" != 'wgs' ];then
if [ "${CALLER}" == 'ug' ]; then
echo "#############################################################################################"
echo "GATK : RealignerTargetCreator - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${JAVA7} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK_OLD} -T RealignerTargetCreator -R ${REF_PATH} -I ${BAM} -nt ${NB_THREAD} -nct 1 -dcov ${DCOV} -known ${INDEL1} -known ${INDEL2} ${INTERVALS_FILE_OPTION} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}.intervals"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${JAVA7} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK_OLD} -T RealignerTargetCreator -R ${REF_PATH} -I ${BAM} -nt ${NB_THREAD} -nct 1 -dcov ${DCOV} -known ${INDEL1} -known ${INDEL2} ${INTERVALS_FILE_OPTION} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}.intervals
ckRes $? "GATK RealignerTargetCreator "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}.intervals"
echo "#############################################################################################"
echo "GATK : IndelRealigner using Queue - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${JAVA7} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE_OLD} -l WARN -S ${SCALA_PATH}IndelRealigner.scala -I ${BAM} -R ${REF_PATH} -known ${INDEL1} -known ${INDEL2} -targetIntervals ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}.intervals -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bam -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run"
echo "#############################################################################################"
${JAVA7} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE_OLD} -l WARN -S ${SCALA_PATH}IndelRealigner.scala -I ${BAM} -R ${REF_PATH} -known ${INDEL1} -known ${INDEL2} -targetIntervals ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}.intervals -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bam -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run
ckRes $? "GATK IndelRealigner "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bam"
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bam
else
mv ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bam
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bai ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bai
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bam
fi
#for testing purpose -- NEEDS TO BE CLARIFIED AFTER VALIDATION: BR WITH WGS OR NOT
#INTERVALS_BR_FILE=${INTERVALS_FILE}
#if [ "${PROTOCOL}" == 'wgs' ];then
# INTERVALS_BR_FILE='refData/wgs/Intervals_BQSR_WGS.list'
#fi
echo "#############################################################################################"
echo "GATK : BaseRecalibrator and PrintReads using Queue - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}BaseRecalibrator.scala -I ${BAM} -R ${REF_PATH} -knownSites ${INDEL1} -knownSites ${INDEL2} -knownSites ${SNP_PATH} -L ${INTERVALS_FILE} -outputDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -gatkOutputDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/ -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run"
echo "#############################################################################################"
${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}BaseRecalibrator.scala -I ${BAM} -R ${REF_PATH} -knownSites ${INDEL1} -knownSites ${INDEL2} -knownSites ${SNP_PATH} -L ${INTERVALS_FILE} -outputDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -gatkOutputDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/ -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run
# -disableJobReport#-jobNative "-cwd ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/"
ckRes $? "GATK BaseRecalibrator "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}.recal.table"
ckRes $? "GATK PrintReads "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.bam"
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.bam
echo "#############################################################################################"
echo "SAMTOOLS Sort : Sort and compress second round - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${SAMTOOLS} sort -@ ${NB_THREAD} -l 9 -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam ${BAM}"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${SAMTOOLS} sort -@ ${NB_THREAD} -l 9 -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam ${BAM}
ckRes $? "samtools sort ";
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam"
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam
echo "#############################################################################################"
echo "SAMBAMBA : Re-Index - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${SAMBAMBA} index -t ${NB_THREAD} ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bai"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${SAMBAMBA} index -t ${NB_THREAD} ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bai
ckRes $? "Sambamba Index "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam"
#to do queue NO DepthOfCoverage PartitionType.NONE http://gatkforums.broadinstitute.org/wdl/discussion/1310/pipelining-the-gatk-with-queuecannot be split
echo "#############################################################################################"
echo "GATK : DepthOfCoverage - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM_GATK_SINGLE}g ${GATK} -T DepthOfCoverage -R ${REF_PATH} -I ${BAM} -omitBaseOutput ${INTERVALS_FILE_OPTION} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_DoC"
echo "#############################################################################################"
#https://software.broadinstitute.org/gatk/blog?id=2330 nt works with -omitIntervalsStatistics which is the interesting part
#${SRUN_24_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK} -T DepthOfCoverage -nt ${NB_THREAD} -R ${REF_PATH} -I ${BAM} -omitBaseOutput -L ${INTERVALS_FILE} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_DoC
${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM_GATK_SINGLE}g ${GATK} -T DepthOfCoverage -R ${REF_PATH} -I ${BAM} -omitBaseOutput ${INTERVALS_FILE_OPTION} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_DoC
echo "#############################################################################################"
echo "GATK : DiagnoseTargets using Queue - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}DiagnoseTargets.scala -I ${BAM} -R ${REF_PATH} ${INTERVALS_FILE_OPTION} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}_DT.vcf -gatkOutputDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/ -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run"
echo "#############################################################################################"
${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}DiagnoseTargets.scala -I ${BAM} -R ${REF_PATH} ${INTERVALS_FILE_OPTION} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}_DT.vcf -gatkOutputDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/ -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run
ckRes $? "GATK DiagnoseTargets "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}_DT.vcf"
echo "#############################################################################################"
echo "GATK : QualifyMissingIntervals - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM_GATK_SINGLE}g ${GATK} -T QualifyMissingIntervals -R ${REF_PATH} -I ${BAM} -L ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}_missing_intervals.list -targets ${INTERVALS_FILE} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_QMI.grp"
echo "#############################################################################################"
${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM_GATK_SINGLE}g ${GATK} -T QualifyMissingIntervals -R ${REF_PATH} -I ${BAM} -L ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK/${CURRENT_SAMPLE_BASEDIR_NAME}_missing_intervals.list -targets ${INTERVALS_FILE} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_QMI.grp
ckRes $? "GATK QualifyMissingIntervals "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_QMI.grp"
if [ "${#QUALIMAP}" -ne 0 ]; then
echo "#############################################################################################"
echo "QUALIMAP : bamqc - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${QUALIMAP} bamqc -bam ${BAM} -outdir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -c --feature-file ${INTERVALS_BED} -nt ${NB_THREAD} -sd"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${QUALIMAP} bamqc -bam ${BAM} -outdir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -c --feature-file ${INTERVALS_BED} -nt ${NB_THREAD} -sd
fi
#####
##### added Picard HSMetrics to get info on on target
#####
if [ "${HSMETRICS}" == 'true' ]; then
echo "#############################################################################################"
echo "Picard : CollectHsMetrics - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Xmx${PICARD_RAM}g ${PICARD} CollectHsMetrics TARGET_INTERVALS=${PICARD_INTERVALS_FILE} BAIT_INTERVALS=${PICARD_BAIT_INTERVALS_FILE} INPUT=${BAM} OUTPUT=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD/HsMetrics.tsv TMP_DIR=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD"
echo "#############################################################################################"
${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Xmx${PICARD_RAM}g ${PICARD} CollectHsMetrics TARGET_INTERVALS=${PICARD_INTERVALS_FILE} BAIT_INTERVALS=${PICARD_BAIT_INTERVALS_FILE} INPUT=${BAM} OUTPUT=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD/HsMetrics.tsv TMP_DIR=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD
ckRes $? "Picard HsMetrics "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_PICARD/HsMetrics.tsv"
fi
else
mv ${BAM} ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bai ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bai
fi
fi
#ony in standard and bam_only mode
if [ "${BAM_ONLY}" == 'false' ];then
#BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam
if [ "${VC_ONLY}" == 'true' ];then
CURRENT_SAMPLE_BASEDIR_NAME='MERGED_SAMPLES'
BAM=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}.bam
ckFileSz ${BAM}
MULTISAMPLE='-m true'
PLATYPUS_BUFFER='--bufferSize=10000'
DP_THRESHOLD=$((${TOTAL_SAMPLES}*10))
fi
if [ "${CALLER}" == 'ug' ]; then
echo "#############################################################################################"
echo "GATK : UnifiedGenotyper - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK} -T UnifiedGenotyper -glm BOTH -nt ${NB_THREAD} -stand_call_conf ${STAND_CALL_CONF} -dcov ${DCOV} -A AlleleBalanceBySample -A ReadPosRankSumTest -dt NONE ${INTERVALS_FILE_OPTION} -D ${SNP_PATH} -I ${BAM} -R ${REF_PATH} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.vcf"
echo "#############################################################################################"
#removed -stand_emit_conf ${STAND_EMIT_CONF} for GATK 3.8
${SRUN_24_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK} -T UnifiedGenotyper -glm BOTH -nt ${NB_THREAD} -stand_call_conf ${STAND_CALL_CONF} -dcov ${DCOV} -A AlleleBalanceBySample -A ReadPosRankSumTest -dt NONE ${INTERVALS_FILE_OPTION} -D ${SNP_PATH} -I ${BAM} -R ${REF_PATH} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.vcf
ckRes $? "GATK : UnifiedGenotyper "
#HARD_TO_VALIDATE='--filterExpression "MQ0 > 4 && ((MQ0 / (1.0 \* DP)) > 0.1)" --filterName "HARD_TO_VALIDATE"'
#removed -A AlleleBalanceBySample as it was computed as ref/total reads while we expect alt/total reads
elif [ "${CALLER}" == 'hc' ]; then
echo "#############################################################################################"
echo "GATK : HaplotypeCaller using Queue - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}HaplotypeCaller.scala -I ${BAM} -R ${REF_PATH} ${INTERVALS_FILE_OPTION} -D ${SNP_PATH} -A ReadPosRankSumTest -stand_call_conf ${STAND_CALL_CONF} -stand_emit_conf ${STAND_EMIT_CONF} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.vcf -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run"
echo "#############################################################################################"
${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}HaplotypeCaller.scala -I ${BAM} -R ${REF_PATH} ${INTERVALS_FILE_OPTION} -D ${SNP_PATH} -A ReadPosRankSumTest -stand_call_conf ${STAND_CALL_CONF} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.vcf -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run
ckRes $? "GATK : HaplotypeCaller "
#-stand_emit_conf ${STAND_EMIT_CONF} removed in GATK 3.8
fi
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.vcf"
#####
##### jvarkitfor homopolymer Annotation. Adds POLYX=Y in INFO fields
#####
echo "#############################################################################################"
echo "JVARKIT : Homopolymer count - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK ${VCF_POLYX} -R ${REF_PATH} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.vcf ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.vcf"
echo "#############################################################################################"
${SRUN_SIMPLE_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK ${VCF_POLYX} -R ${REF_PATH} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.vcf ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.vcf
ckRes $? "JVARKIT : Homopolymer count "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.vcf"
echo "#############################################################################################"
echo "GATK : VariantFiltration using Queue - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}VariantFiltration.scala -V ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.vcf -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.gatk.vcf -R ${REF_PATH} -dcov ${DCOV} -filterExpression \"DP < ${DP_THRESHOLD}\" -filterName \"LowCoverage\" -filterExpression \"QUAL < 30.0\" -filterName \"LowQual\" -filterExpression \"QD < 1.5\" -filterName \"LowQD\" -filterExpression \"FS > 60.000\" -filterName \"StrandBias\" -filterExpression \"MQ < 10.00\" -filterName \"LowMappingQuality\" -filterExpression \"POLYX > 7\" -filterName \"R8\" -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run"
echo "#############################################################################################"
echo "DP Threshold used for LowCoverage: ${DP_THRESHOLD}"
${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE -Xmx${MAX_RAM}g ${QUEUE} -l WARN -S ${SCALA_PATH}VariantFiltration.scala -V ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.vcf -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.gatk.vcf -R ${REF_PATH} -dcov ${DCOV} -filterExpression "DP < ${DP_THRESHOLD}" -filterName "LowCoverage" -filterExpression "QUAL < 30.0" -filterName "LowQual" -filterExpression "QD < 1.5" -filterName "LowQD" -filterExpression "FS > 60.000" -filterName "StrandBias" -filterExpression "MQ < 10.00" -filterName "LowMappingQuality" -filterExpression "POLYX > 7" -filterName "R8" -nbThreads ${NB_THREAD} ${QUEUE_RUNNER} -jobSGDir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA/ -disableJobReport -run
ckRes $? "GATK : VariantFiltration "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.gatk.vcf"
if [ "${VC_ONLY}" == 'false' ];then
#####
##### perl script to annotate AB for homozygous and indels - works only with VCF with one sample
#####
echo "#############################################################################################"
echo "PERL : AlleleBalanceCompletion - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_SIMPLE_COMMAND} ${PERL} -wT ${IURC_VCF_AB} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.gatk.vcf"
echo "#############################################################################################"
${SRUN_SIMPLE_COMMAND} ${PERL} -wT ${IURC_VCF_AB} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.gatk.vcf
ckRes $? "PERL : AlleleBalanceCompletion ";
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf"
else
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.polyx.gatk.vcf ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf
fi
if [ "${USE_PLATYPUS}" == 'true' ];then
#####
#####PLATYPUS variant calling
#####
echo "#############################################################################################"
echo "PLATYPUS : VariantCalling second round - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${PYTHON} ${PLATYPUS} callVariants --bamFiles=${BAM} --refFile=${REF_PATH} --nCPU=${NB_THREAD} --verbosity 1 ${PLATYPUS_BUFFER} --regions=${PLATYPUS_INTERVALS} --output=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.vcf"
echo "#############################################################################################"
export C_INCLUDE_PATH=${HTSLIB}/include:${C_INCLUDE_PATH}
export LIBRARY_PATH=${HTSLIB}/lib:${LIBRARY_PATH}
export LD_LIBRARY_PATH=${HTSLIB}/lib:${LD_LIBRARY_PATH}
echo "#############################################################################################"
echo "C_INCLUDE_PATH: ${C_INCLUDE_PATH} "
echo "LIBRARY_PATH: ${LIBRARY_PATH} "
echo "LD_LIBRARY_PATH: ${LD_LIBRARY_PATH}"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${PYTHON} ${PLATYPUS} callVariants --minFlank=0 --bamFiles=${BAM} --refFile=${REF_PATH} --nCPU=${NB_THREAD} --verbosity 1 ${PLATYPUS_BUFFER} --regions=${PLATYPUS_INTERVALS} --output=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.vcf
ckRes $? "PLATYPUS : VariantCalling second round "
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.vcf"
######
######PLATYPUS split MNPs into SNPs ---- replaced here with --minFlank=0 which should not generate any MNPs
######But be careful as it is also used to define read edges https://groups.google.com/forum/#!topic/platypus-users/bXgzdMjx3e8
######Removed produces erros wth Combinevariants on large datasets such as truesight one
######
#echo "#############################################################################################"
#echo "PLATYPUS : Split MNPs - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
#echo "COMMAND: ${SRUN_SIMPLE_COMMAND} /usr/bin/cat ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.vcf | ${PYTHON} ${PLATYPUS_SPLIT_MNPS} > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.splitted.vcf"
#echo "#############################################################################################"
#
#${SRUN_SIMPLE_COMMAND} /usr/bin/cat ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.vcf | ${PYTHON} ${PLATYPUS_SPLIT_MNPS} > ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.splitted.vcf
#
#ckRes $? "PLATYPUS : Split MNPs "
#ckFileSz ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.splitted.vcf
#####
#####GATK to merge VCFs
#####
echo "#############################################################################################"
echo "GATK : CombineVariants - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK} -T CombineVariants -R ${REF_PATH} -nt ${NB_THREAD} --variant ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.gatk.vcf --variant ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.splitted.vcf -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf -genotypeMergeOptions UNSORTED"
echo "#############################################################################################"
#rename gatk vcf
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.gatk.vcf
${SRUN_24_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK} -T CombineVariants -R ${REF_PATH} -nt ${NB_THREAD} --variant ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.gatk.vcf --variant ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.vcf -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf -genotypeMergeOptions UNSORTED
#combine: 1st GATK then Platypus vcfs, UNSORTED option only keeps GATK FORMAT fields - move to UNIQUIFY to keep both
ckRes $? "GATK : CombineVariants ";
ckFileSz "${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf"
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.gatk.vcf*
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.platypus.*
fi
echo "#############################################################################################"
echo "GATK : VariantEval - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${SRUN_24_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK} -T VariantEval -R ${REF_PATH} -nt ${NB_THREAD} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_VariantEval.table --eval ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf -D ${SNP_PATH} -gold ${INDEL1} -EV MetricsCollection"
echo "#############################################################################################"
${SRUN_24_COMMAND} ${JAVA} -jar -Djava.io.tmpdir=${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK -Xmx${MAX_RAM}g ${GATK} -T VariantEval -R ${REF_PATH} -nt ${NB_THREAD} -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}_VariantEval.table --eval ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.final.vcf -D ${SNP_PATH} -gold ${INDEL1} -EV MetricsCollection
fi
# CLEAN UP THE MESS
if [ "${CLEAN_UP}" == 'true' ];then
rm -R ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_GATK
rm -R ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_QUEUE
if [ "${PROTOCOL}" != 'wgs' ];then
rm -R ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_SAMBAMBA
fi
rm -R ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_DRMAA
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/.${CURRENT_SAMPLE_BASEDIR_NAME}.*
if [ "${BAM_ONLY}" == 'false' ];then
rm -R ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/DIR_FASTQC/tmp
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.raw.*
fi
if [ "${VC_ONLY}" == 'false' ];then
#rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.uncompressed.bam
if [ "${PROTOCOL}" != 'wgs' ];then
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.bam
#rm -f ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam.bai
rm -f ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bam
rm -f ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.bai
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bam
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.bai
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.bam
rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.bai
mkdir ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/QUEUE_LOG/
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.*.out ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/QUEUE_LOG/
fi
#rm ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.*.out
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bam ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.bam
mv ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.sorted.dupMarked.realigned.recalibrated.compressed.bai ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/${CURRENT_SAMPLE_BASEDIR_NAME}.bai
fi
fi
# ANNOTATION ---- ANNOTATION PASSED TO OTHER SCRIPT nenufaar_annot_version.sh
if [ "${ANNOTATOR}" == 'annovar' ]; then
echo "#############################################################################################"
echo "NENUFAAR : ANNOTATION MODULE - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${BASH} ${ANNOTATION_SCRIPT} -a ${ANNOTATOR} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -g ${GENOME} -f ${FILTER} ${LIST} ${MULTISAMPLE}"
echo "#############################################################################################"
${BASH} ${ANNOTATION_SCRIPT} -a ${ANNOTATOR} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -g ${GENOME} -f ${FILTER} ${LIST} ${MULTISAMPLE}
elif [ "${GENOME}" == 'hg19' ];then
if [ "${ANNOTATOR}" == 'merge' ];then
echo "#############################################################################################"
echo "NENUFAAR : ANNOTATION MODULE - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${BASH} ${ANNOTATION_SCRIPT} -a ${ANNOTATOR} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -g ${GENOME} ${LIST} ${MULTISAMPLE}"
echo "#############################################################################################"
${BASH} ${ANNOTATION_SCRIPT} -a ${ANNOTATOR} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -g ${GENOME} ${LIST} ${MULTISAMPLE}
elif [ "${ANNOTATOR}" == 'cava' ];then
echo "#############################################################################################"
echo "NENUFAAR : ANNOTATION MODULE - `date` ID_ANALYSE : ${ID} - Run : ${RUN_BASEDIR_NAME} - SAMPLE : ${CURRENT_SAMPLE_BASEDIR_NAME}"
echo "COMMAND: ${BASH} ${ANNOTATION_SCRIPT} -a ${ANNOTATOR} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ ${LIST} -g ${GENOME}"
echo "#############################################################################################"
${BASH} ${ANNOTATION_SCRIPT} -a ${ANNOTATOR} -i ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ -o ${OUTPUT_PATH}${RUN_BASEDIR_NAME}/${CURRENT_SAMPLE_BASEDIR_NAME}/${ID}/ ${LIST} -g ${GENOME}
fi