@@ -1,25 +1,25 @@ | |||
{ | |||
"fasta": "GRCh38.d1.vd1.fa", | |||
"ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"dbsnp": "dbsnp_146.hg38.vcf", | |||
"dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics", | |||
"SENTIEON_LICENSE": "192.168.0.55:8990", | |||
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | |||
"sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2020.10.07", | |||
"bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | |||
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | |||
"maftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/r-base:4.0.2", | |||
"bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | |||
"database": "oss://pgx-reference-data/annovar_hg38/", | |||
"regions": "oss://pgx-reference-data/reference/wes_bedfiles/agilent_v6/SureSelect_Human_All_Exon_V6_r2.bed", | |||
"set_pon": "true", | |||
"cosmic_vcf": "CosmicCodingMuts.hg38.v91.vcf", | |||
"cosmic_dir": "oss://pgx-reference-data/reference/cosmic/", | |||
"disk_size": "200", | |||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", | |||
"set_annovar": "true", | |||
"set_vcf2maf": "true", | |||
"germline": "false" | |||
"fasta": "GRCh38.d1.vd1.fa", | |||
"ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"dbsnp": "dbsnp_146.hg38.vcf", | |||
"dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics", | |||
"SENTIEON_LICENSE": "192.168.0.55:8990", | |||
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | |||
"sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2020.10.07", | |||
"bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | |||
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | |||
"maftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/r-base:4.0.2", | |||
"bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | |||
"database": "oss://pgx-reference-data/annovar_hg38/", | |||
"regions": "oss://pgx-reference-data/reference/wes_bedfiles/agilent_v6/SureSelect_Human_All_Exon_V6_r2.bed", | |||
"set_pon": "true", | |||
"cosmic_vcf": "CosmicCodingMuts.hg38.v91.vcf", | |||
"cosmic_dir": "oss://pgx-reference-data/reference/cosmic/", | |||
"disk_size": "200", | |||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", | |||
"set_annovar": "true", | |||
"set_vcf2maf": "true", | |||
"germline": "false" | |||
} |
@@ -1,51 +1,51 @@ | |||
task PoN { | |||
String SENTIEON_INSTALL_DIR | |||
String SENTIEON_LICENSE | |||
File ref_dir | |||
String fasta | |||
File cosmic_dir | |||
String cosmic_vcf | |||
File dbsnp_dir | |||
String dbsnp | |||
File regions | |||
String SENTIEON_INSTALL_DIR | |||
String SENTIEON_LICENSE | |||
File ref_dir | |||
String fasta | |||
File cosmic_dir | |||
String cosmic_vcf | |||
File dbsnp_dir | |||
String dbsnp | |||
File regions | |||
File normal_bam | |||
File normal_bam_index | |||
String sample=basename(normal_bam, ".*") | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=${SENTIEON_LICENSE} | |||
nt=$(nproc) | |||
mkdir -p /cromwell_root/tmp/cosmic/ | |||
cp ${cosmic_dir}/${cosmic_vcf} /cromwell_root/tmp/cosmic/ | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex /cromwell_root/tmp/cosmic/${cosmic_vcf} | |||
File normal_bam | |||
File normal_bam_index | |||
String sample=basename(normal_bam, ".*") | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=${SENTIEON_LICENSE} | |||
nt=$(nproc) | |||
mkdir -p /cromwell_root/tmp/cosmic/ | |||
cp ${cosmic_dir}/${cosmic_vcf} /cromwell_root/tmp/cosmic/ | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex /cromwell_root/tmp/cosmic/${cosmic_vcf} | |||
# Generating TNhaplotyper PoN | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${normal_bam} --algo TNhaplotyper --detect_pon --cosmic /cromwell_root/tmp/cosmic/${cosmic_vcf} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}_TNhaplotyper_pon.vcf | |||
# Generating TNhaplotyper PoN | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${normal_bam} --algo TNhaplotyper --detect_pon --cosmic /cromwell_root/tmp/cosmic/${cosmic_vcf} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}_TNhaplotyper_pon.vcf | |||
# Generating TNhaplotyper2 PoN | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${normal_bam} --algo TNhaplotyper2 --normal_sample ${sample} ${sample}_TNhaplotyper2_pon.vcf | |||
# Generating TNhaplotyper2 PoN | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${normal_bam} --algo TNhaplotyper2 --normal_sample ${sample} ${sample}_TNhaplotyper2_pon.vcf | |||
# Generating TNscope PoN | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${normal_bam} --algo TNscope --normal_sample ${sample} ${sample}_TNscope_pon.vcf | |||
>>> | |||
runtime { | |||
docker: docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
# Generating TNscope PoN | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${normal_bam} --algo TNscope --normal_sample ${sample} ${sample}_TNscope_pon.vcf | |||
>>> | |||
runtime { | |||
docker: docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File TNhaplotyper_pon_vcf = "${sample}_TNhaplotyper_pon.vcf" | |||
File TNhaplotyper2_pon_vcf = "${sample}_TNhaplotyper2_pon.vcf" | |||
File TNscope_pon_vcf = "${sample}_TNscope_pon.vcf" | |||
} | |||
output { | |||
File TNhaplotyper_pon_vcf = "${sample}_TNhaplotyper_pon.vcf" | |||
File TNhaplotyper2_pon_vcf = "${sample}_TNhaplotyper2_pon.vcf" | |||
File TNscope_pon_vcf = "${sample}_TNscope_pon.vcf" | |||
} | |||
} |
@@ -1,33 +1,33 @@ | |||
task mergePoN { | |||
Array[File] pon_vcfs | |||
String panel_id | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
Array[File] pon_vcfs | |||
String panel_id | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
mkdir -p /cromwell_root/tmp/bcftools | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
mkdir -p /cromwell_root/tmp/bcftools | |||
for i in ${sep=" " pon_vcfs} | |||
do | |||
bcftools view $i -Oz -o /cromwell_root/tmp/bcftools/$(basename $i.gz) | |||
bcftools index /cromwell_root/tmp/bcftools/$(basename $i.gz) -f | |||
done | |||
for i in ${sep=" " pon_vcfs} | |||
do | |||
bcftools view $i -Oz -o /cromwell_root/tmp/bcftools/$(basename $i.gz) | |||
bcftools index /cromwell_root/tmp/bcftools/$(basename $i.gz) -f | |||
done | |||
bcftools merge -m all -f PASS,. --force-samples /cromwell_root/tmp/bcftools/*.vcf.gz | bcftools plugin fill-AN-AC | bcftools filter -i 'SUM(AC)>1' > ${panel_id}_pon.vcf | |||
>>> | |||
bcftools merge -m all -f PASS,. --force-samples /cromwell_root/tmp/bcftools/*.vcf.gz | bcftools plugin fill-AN-AC | bcftools filter -i 'SUM(AC)>1' > ${panel_id}_pon.vcf | |||
>>> | |||
runtime { | |||
docker: docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File panel_of_normal_vcf = "${panel_id}_pon.vcf" | |||
} | |||
runtime { | |||
docker: docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File panel_of_normal_vcf = "${panel_id}_pon.vcf" | |||
} | |||
} |