@@ -8,18 +8,7 @@ | |||
"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/", | |||
"regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Padded.bed", | |||
"disk_size": "200", | |||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", | |||
"set_annovar": "true", | |||
"set_vcf2maf": "true", | |||
"germline": "false" | |||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc" | |||
} |
@@ -1,6 +1,7 @@ | |||
{ | |||
"{{ project_name }}.panel_id": "{{ panel_id }}", | |||
"{{ project_name }}.normal_recaled_bam_bai": {{ normal_recaled_bam_bai | tojson }}, | |||
"{{ project_name }}.deduped_bam": "{{ deduped_bam }}", | |||
"{{ project_name }}.deduped_bam_index": "{{ deduped_bam_index }}", | |||
"{{ project_name }}.fasta": "{{ fasta }}", | |||
"{{ project_name }}.ref_dir": "{{ ref_dir }}", | |||
"{{ project_name }}.dbsnp": "{{ dbsnp }}", | |||
@@ -10,17 +11,7 @@ | |||
"{{ project_name }}.dbmills_dir": "{{ dbmills_dir }}", | |||
"{{ project_name }}.db_mills": "{{ db_mills }}", | |||
"{{ project_name }}.sentieon_docker": "{{ sentieon_docker }}", | |||
"{{ project_name }}.bcftools_docker": "{{ bcftools_docker }}", | |||
"{{ project_name }}.annovar_docker": "{{ annovar_docker }}", | |||
"{{ project_name }}.maftools_docker": "{{ maftools_docker }}", | |||
"{{ project_name }}.database": "{{ database }}", | |||
"{{ project_name }}.regions": "{{ regions }}", | |||
"{{ project_name }}.set_pon": {{ set_pon }}, | |||
"{{ project_name }}.cosmic_vcf": "{{ cosmic_vcf }}", | |||
"{{ project_name }}.cosmic_dir": "{{ cosmic_dir }}", | |||
"{{ project_name }}.disk_size": "{{ disk_size }}", | |||
"{{ project_name }}.cluster_config": "{{ cluster_config }}", | |||
"{{ project_name }}.set_annovar": {{ set_annovar }}, | |||
"{{ project_name }}.set_vcf2maf": {{ set_vcf2maf }}, | |||
"{{ project_name }}.germline": {{ germline }} | |||
} | |||
"{{ project_name }}.cluster_config": "{{ cluster_config }}" | |||
} |
@@ -2,14 +2,15 @@ task BQSR { | |||
File ref_dir | |||
File dbsnp_dir | |||
String dbsnp | |||
File dbmills_dir | |||
String db_mills | |||
String sample | |||
String SENTIEON_INSTALL_DIR | |||
String SENTIEON_LICENSE | |||
String fasta | |||
String dbsnp | |||
String db_mills | |||
File realigned_bam | |||
File realigned_bam_index | |||
String docker |
@@ -4,10 +4,6 @@ task PoN { | |||
String SENTIEON_LICENSE | |||
File ref_dir | |||
String fasta | |||
File cosmic_dir | |||
String cosmic_vcf | |||
File dbsnp_dir | |||
String dbsnp | |||
File regions | |||
File normal_bam | |||
@@ -22,18 +18,18 @@ task PoN { | |||
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 | |||
if [ ${regions} ]; then | |||
INTERVAL="--interval ${regions} --interval_padding ${interval_padding}" | |||
else | |||
INTERVAL="" | |||
fi | |||
# 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 | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt $INTERVAL -r ${ref_dir}/${fasta} -i ${normal_bam} \ | |||
--algo TNhaplotyper2 --normal_sample ${sample} ${sample}.TNseq.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 | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt $INTERVAL -r ${ref_dir}/${fasta} -i ${normal_bam} \ | |||
--algo TNscope --normal_sample ${sample} ${sample}.TNscope.PoN.vcf | |||
>>> | |||
runtime { | |||
@@ -44,8 +40,7 @@ task PoN { | |||
} | |||
output { | |||
File TNhaplotyper_pon_vcf = "${sample}_TNhaplotyper_pon.vcf" | |||
File TNhaplotyper2_pon_vcf = "${sample}_TNhaplotyper2_pon.vcf" | |||
File TNscope_pon_vcf = "${sample}_TNscope_pon.vcf" | |||
File TNseq_pon_vcf = "${sample}.TNseq.PoN.vcf" | |||
File TNscope_pon_vcf = "${sample}.TNscope.PoN.vcf" | |||
} | |||
} |
@@ -38,7 +38,6 @@ task Realigner { | |||
output { | |||
File realigner_bam = "${sample}.sorted.deduped.realigned.bam" | |||
File realigner_bam_index = "${sample}.sorted.deduped.realigned.bam.bai" | |||
} | |||
} | |||
@@ -7,15 +7,16 @@ workflow {{ project_name }} { | |||
String SENTIEON_LICENSE | |||
String panel_id | |||
File deduped_bam | |||
File deduped_bam_index | |||
File regions | |||
File ref_dir | |||
String fasta | |||
File cosmic_dir | |||
String cosmic_vcf | |||
File dbsnp_dir | |||
String dbsnp | |||
File regions | |||
File dbmills_dir | |||
String db_mills | |||
Array[Array[File]] normal_recaled_bam_bai | |||
String sentieon_docker | |||
String cluster_config | |||
String disk_size | |||
@@ -27,8 +28,8 @@ workflow {{ project_name }} { | |||
SENTIEON_LICENSE=SENTIEON_LICENSE, | |||
fasta=fasta, | |||
ref_dir=ref_dir, | |||
deduped_bam=Dedup.deduped_bam, | |||
deduped_bam_index=Dedup.deduped_bam_index, | |||
deduped_bam=deduped_bam, | |||
deduped_bam_index=deduped_bam_index, | |||
db_mills=db_mills, | |||
dbmills_dir=dbmills_dir, | |||
sample=sample_id + '_tumor', | |||
@@ -64,10 +65,6 @@ workflow {{ project_name }} { | |||
regions=regions, | |||
normal_bam=BQSR.recaled_bam, | |||
normal_bam_index=BQSR.recaled_bam_index, | |||
cosmic_vcf=cosmic_vcf, | |||
cosmic_dir=cosmic_dir, | |||
dbsnp=dbsnp, | |||
dbsnp_dir=dbsnp_dir, | |||
docker=sentieon_docker, | |||
disk_size=disk_size, | |||
cluster_config=cluster_config |