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LUYAO REN 5 年前
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共有 4 个文件被更改,包括 125 次插入0 次删除
  1. 二进制
      .DS_Store
  2. +16
    -0
      inputs
  3. +69
    -0
      tasks/VQSR.wdl
  4. +40
    -0
      workflow.wdl

二进制
.DS_Store 查看文件


+ 16
- 0
inputs 查看文件

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{
"{{ project_name }}.SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics",
"{{ project_name }}.fasta": "GRCh38.d1.vd1.fa",
"{{ project_name }}.disk_size": "50",
"{{ project_name }}.dbsnp_1000G_phase1": "1000G_phase1.snps.high_confidence.hg38.vcf.gz",
"{{ project_name }}.dbsnp_hapmap": "hapmap_3.3.hg38.vcf.gz",
"{{ project_name }}.docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2018.08.01",
"{{ project_name }}.dbsnp_Mill": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
"{{ project_name }}.vcf_index": "{{ vcf_index }}",
"{{ project_name }}.cluster_config": "{{ cluster_config }}",
"{{ project_name }}.dbsnp_1000G_omni": "1000G_omni2.5.hg38.vcf.gz",
"{{ project_name }}.vcf": "{{ vcf }}",
"{{ project_name }}.sample": "{{ sample }}",
"{{ project_name }}.dbsnp": "dbsnp_146.hg38.vcf",
"{{ project_name }}.ref_dir": "oss://chinese-quartet/quartet-storage-data/reference_data/"
}

+ 69
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tasks/VQSR.wdl 查看文件

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task VQSR {
String SENTIEON_INSTALL_DIR
String fasta
File vcf
File vcf_index
File ref_dir
String dbsnp
String dbsnp_Mill
String dbsnp_1000G_omni
String dbsnp_hapmap
String dbsnp_1000G_phase1
String sample
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990

resource_text="--resource ${dbsnp_1000G_phase1} \
--resource_param 1000G,known=false,training=true,truth=false,prior=10.0 "
resource_text="$resource_text --resource ${dbsnp_1000G_omni} \
--resource_param omni,known=false,training=true,truth=true,prior=12.0 "
resource_text="$resource_text --resource ${dbsnp} \
--resource_param dbsnp,known=true,training=false,truth=false,prior=2.0 "
resource_text="$resource_text --resource ${dbsnp_hapmap} \
--resource_param hapmap,known=false,training=true,truth=true,prior=15.0"

annotation_array="DP QD FS SOR MQ MQRankSum ReadPosRankSum"
for annotation in $annotation_array; do
annotate_text="$annotate_text --annotation $annotation"
done

${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} --algo VarCal -v ${vcf} $resource_text $annotate_text --var_type SNP --plot_file ${sample}.vqsrSNP.hc.plotfile --tranches_file ${sample}.vqsrSNP.hc.tranches ${sample}.vqsrSNP.hc.recal
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} --algo ApplyVarCal -v ${vcf} --var_type SNP --tranches_file ${sample}.vqsrSNP.hc.tranches --sensitivity 99.0 --recal ${sample}.vqsrSNP.hc.recal ${sample}.vqsrSNP.hc.recaled.vcf.gz
${SENTIEON_INSTALL_DIR}/bin/sentieon plot vqsr -o ${sample}.vqsrSNP.pdf ${sample}.vqsrSNP.hc.plotfile

resource_text="$resource_text --resource ${dbsnp_Mill} \
--resource_param Mills,known=false,training=true,truth=true,prior=12.0 "
resource_text="$resource_text --resource ${dbsnp} \
--resource_param dbsnp,known=true,training=false,truth=false,prior=2.0 "

annotation_array="QD DP FS SOR MQ ReadPosRankSum"
annotate_text=""
for annotation in $annotation_array; do
annotate_text="$annotate_text --annotation $annotation"
done

${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} --algo VarCal -v ${vcf} $resource_text $annotate_text --var_type INDEL --plot_file ${sample}.vqsrINDEL.hc.plotfile --max_gaussians 4 --tranches_file ${sample}.vqsrINDEL.hc.tranches ${sample}.vqsrINDEL.hc.recal
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} --algo ApplyVarCal -v ${sample}.vqsrSNP.hc.recaled.vcf.gz --var_type INDEL --recal ${sample}.vqsrINDEL.hc.recal --tranches_file ${sample}.vqsrINDEL.hc.tranches --sensitivity 99.0 ${sample}.vqsrSNPINDEL.hc.recaled.vcf.gz
${SENTIEON_INSTALL_DIR}/bin/sentieon plot vqsr -o ${sample}.vqsrINDEL.VQSR.pdf ${sample}.vqsrINDEL.hc.plotfile

>>>
runtime {
dockerTag:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}

output {
File filtered_vcf = "${sample}.vqsrSNPINDEL.hc.recaled.vcf.gz"
}
}



+ 40
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workflow.wdl 查看文件

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import "./tasks/VQSR.wdl" as VQSR

workflow {{ project_name }} {

String SENTIEON_INSTALL_DIR
String fasta
File vcf
File vcf_index
File ref_dir
String dbsnp
String dbsnp_Mill
String dbsnp_1000G_omni
String dbsnp_hapmap
String dbsnp_1000G_phase1
String sample
String docker
String cluster_config
String disk_size


call VQSR.VQSR as VQSR {
input:
SENTIEON_INSTALL_DIR=SENTIEON_INSTALL_DIR,
fasta=fasta,
vcf=vcf,
vcf_index=vcf_index,
ref_dir=ref_dir,
dbsnp=dbsnp,
dbsnp_Mill=dbsnp_Mill,
dbsnp_1000G_omni=dbsnp_1000G_omni,
dbsnp_hapmap=dbsnp_hapmap,
dbsnp_1000G_phase1=dbsnp_1000G_phase1,
sample=sample,
docker=docker,
cluster_config=cluster_config,
disk_size=disk_size
}

}


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