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YaqingLiu hace 4 años
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Se han modificado 4 ficheros con 129 adiciones y 0 borrados
  1. +24
    -0
      defaults
  2. +26
    -0
      inputs
  3. +41
    -0
      tasks/PON.wdl
  4. +38
    -0
      workflow.wdl

+ 24
- 0
defaults Ver fichero

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{
"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:v2019.11.28",
"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"
}

+ 26
- 0
inputs Ver fichero

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{
"{{ project_name }}.sample_id": "{{ sample_id }}",
"{{ project_name }}.normal_recaled_bam": "{{ normal_recaled_bam }}",
"{{ project_name }}.normal_recaled_bam_index": "{{ normal_recaled_bam_index }}",
"{{ project_name }}.fasta": "{{ fasta }}",
"{{ project_name }}.ref_dir": "{{ ref_dir }}",
"{{ project_name }}.dbsnp": "{{ dbsnp }}",
"{{ project_name }}.dbsnp_dir": "{{ dbsnp_dir }}",
"{{ project_name }}.SENTIEON_INSTALL_DIR": "{{ SENTIEON_INSTALL_DIR }}",
"{{ project_name }}.SENTIEON_LICENSE": "{{ SENTIEON_LICENSE }}",
"{{ project_name }}.dbmills_dir": "{{ dbmills_dir }}",
"{{ project_name }}.db_mills": "{{ db_mills }}",
"{{ project_name }}.sentieon_docker": "{{ sentieon_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 }}
}

+ 41
- 0
tasks/PON.wdl Ver fichero

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task PON {

String SENTIEON_INSTALL_DIR
String SENTIEON_LICENSE
String sample

File ref_dir
String fasta
File cosmic_dir
String cosmic_vcf
File dbsnp_dir
String dbsnp

File normal_recaled_bam
File normal_recaled_bam_index
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}
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt -r ${ref_dir}/${fasta} -i ${normal_recaled_bam} --algo TNhaplotyper --detect_pon --cosmic /cromwell_root/tmp/cosmic/${cosmic_vcf} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}_pon.vcf
>>>
runtime {
docker: docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}

output {
File pon_vcf = "${sample}_pon.vcf"
}
}

+ 38
- 0
workflow.wdl Ver fichero

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import "./tasks/PON.wdl" as PON

String SENTIEON_INSTALL_DIR
String SENTIEON_LICENSE
String sample_id

File ref_dir
String fasta
File cosmic_dir
String cosmic_vcf
File dbsnp_dir
String dbsnp

File normal_recaled_bam
File normal_recaled_bam_index
String sentieon_docker
String cluster_config
String disk_size
workflow {{ project_name }} {
call PON.PON as PON {
input:
SENTIEON_INSTALL_DIR=SENTIEON_INSTALL_DIR,
SENTIEON_LICENSE=SENTIEON_LICENSE,
sample=sample_id,
fasta=fasta,
ref_dir=ref_dir,
normal_recaled_bam=BQSR.recaled_bam,
normal_recaled_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
}
}

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