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YaqingLiu 4 年之前
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共有 16 個檔案被更改,包括 473 行新增0 行删除
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      README.md
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      assets/%5CUsers%5Cthink%5CAppData%5CRoaming%5CTypora%5Ctypora-user-images%5C1547626023006.png
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      inputs
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      tasks/BQSR.wdl
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      tasks/Dedup.wdl
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      tasks/Haplotyper.wdl
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      tasks/Metrics.wdl
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      tasks/Realigner.wdl
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      tasks/TNscope.wdl
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      tasks/TNseq.wdl
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      tasks/corealigner.wdl
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      tasks/deduped_Metrics.wdl
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      tasks/mapping.wdl
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      workflow.wdl

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README.md 查看文件


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inputs 查看文件

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{
"{{ project_name }}.fasta": "GRCh38.d1.vd1.fa",
"{{ project_name }}.ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"{{ project_name }}.dbsnp": "dbsnp_146.hg38.vcf",
"{{ project_name }}.SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics",
"{{ project_name }}.dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"{{ project_name }}.db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
"{{ project_name }}.cluster_config": "{{ cluster if cluster != '' else 'OnDemand ecs.sn1ne.8xlarge img-ubuntu-vpc' }}",
"{{ project_name }}.docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2018.08.01",
"{{ project_name }}.dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"{{ project_name }}.sample": "{{ sample_name }}",
"{{ project_name }}.disk_size": 500
}


+ 48
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tasks/BQSR.wdl 查看文件

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task BQSR {
File ref_dir
File dbsnp_dir
File dbmills_dir
String sample
String SENTIEON_INSTALL_DIR
String fasta
String dbsnp
String db_mills
File realigned_bam
File realigned_bam_index
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)

${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${realigned_bam} --algo QualCal -k ${dbsnp_dir}/${dbsnp} -k ${dbmills_dir}/${db_mills} ${sample}_recal_data.table

${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${realigned_bam} -q ${sample}_recal_data.table --algo QualCal -k ${dbsnp_dir}/${dbsnp} -k ${dbmills_dir}/${db_mills} ${sample}_recal_data.table.post --algo ReadWriter ${sample}.sorted.deduped.realigned.recaled.bam

${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --algo QualCal --plot --before ${sample}_recal_data.table --after ${sample}_recal_data.table.post ${sample}_recal_data.csv

${SENTIEON_INSTALL_DIR}/bin/sentieon plot QualCal -o ${sample}_bqsrreport.pdf ${sample}_recal_data.csv

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

output {
File recal_table = "${sample}_recal_data.table"
File recal_post = "${sample}_recal_data.table.post"
File recaled_bam = "${sample}.sorted.deduped.realigned.recaled.bam"
File recaled_bam_index = "${sample}.sorted.deduped.realigned.recaled.bam.bai"
File recal_csv = "${sample}_recal_data.csv"
File bqsrreport_pdf = "${sample}_bqsrreport.pdf"
}
}

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tasks/Dedup.wdl 查看文件

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task Dedup {

String SENTIEON_INSTALL_DIR
String sample

File sorted_bam
File sorted_bam_index
String docker
String cluster_config
String disk_size


command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt -i ${sorted_bam} --algo LocusCollector --fun score_info ${sample}_score.txt
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt -i ${sorted_bam} --algo Dedup --rmdup --score_info ${sample}_score.txt --metrics ${sample}_dedup_metrics.txt ${sample}.sorted.deduped.bam
>>>
runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}

output {
File score = "${sample}_score.txt"
File dedup_metrics = "${sample}_dedup_metrics.txt"
File Dedup_bam = "${sample}.sorted.deduped.bam"
File Dedup_bam_index = "${sample}.sorted.deduped.bam.bai"
}
}







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tasks/Haplotyper.wdl 查看文件

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task Haplotyper {
File ref_dir
File dbsnp_dir

String SENTIEON_INSTALL_DIR
String fasta
File recaled_bam
File recaled_bam_index
String dbsnp
String sample
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${recaled_bam} --algo Haplotyper -d ${dbsnp_dir}/${dbsnp} ${sample}_hc.vcf
>>>
runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}

output {
File vcf = "${sample}_hc.vcf"
File vcf_idx = "${sample}_hc.vcf.idx"
}
}



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tasks/Metrics.wdl 查看文件

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task Metrics {


File ref_dir
String SENTIEON_INSTALL_DIR
String sample
String docker
String cluster_config

String fasta
File sorted_bam
File sorted_bam_index
String disk_size


command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${sorted_bam} --algo MeanQualityByCycle ${sample}_mq_metrics.txt --algo QualDistribution ${sample}_qd_metrics.txt --algo GCBias --summary ${sample}_gc_summary.txt ${sample}_gc_metrics.txt --algo AlignmentStat ${sample}_aln_metrics.txt --algo InsertSizeMetricAlgo ${sample}_is_metrics.txt --algo CoverageMetrics --omit_base_output ${sample}_coverage_metrics

${SENTIEON_INSTALL_DIR}/bin/sentieon plot metrics -o ${sample}_metrics_report.pdf gc=${sample}_gc_metrics.txt qd=${sample}_qd_metrics.txt mq=${sample}_mq_metrics.txt isize=${sample}_is_metrics.txt
>>>
runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File qd_metrics = "${sample}_qd_metrics.txt"
File qd_metrics_pdf = "${sample}_qd_metrics.pdf"
File mq_metrics = "${sample}_mq_metrics.txt"
File mq_metrics_pdf = "${sample}_mq_metrics.pdf"
File is_metrics = "${sample}_is_metrics.txt"
File is_metrics_pdf = "${sample}_is_metrics.pdf"
File gc_summary = "${sample}_gc_summary.txt"
File gc_metrics = "${sample}_gc_metrics.txt"
File gc_metrics_pdf = "${sample}_gc_metrics.pdf"
File aln_metrics = "${sample}_aln_metrics.txt"
File coverage_metrics_sample_summary = "${sample}_coverage_metrics.sample_summary"
File coverage_metrics_sample_statistics = "${sample}_coverage_metrics.sample_statistics"
File coverage_metrics_sample_interval_statistics = "${sample}_coverage_metrics.sample_interval_statistics"
File coverage_metrics_sample_cumulative_coverage_proportions = "${sample}_coverage_metrics.sample_cumulative_coverage_proportions"
File coverage_metrics_sample_cumulative_coverage_counts = "${sample}_coverage_metrics.sample_cumulative_coverage_counts"
}

}






+ 41
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tasks/Realigner.wdl 查看文件

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task Realigner {

File ref_dir
File dbmills_dir

String SENTIEON_INSTALL_DIR
String sample
String fasta

File Dedup_bam
File Dedup_bam_index
String db_mills
String docker
String cluster_config
String disk_size


command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${Dedup_bam} --algo Realigner -k ${dbmills_dir}/${db_mills} ${sample}.sorted.deduped.realigned.bam
>>>

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

output {
File realigner_bam = "${sample}.sorted.deduped.realigned.bam"
File realigner_bam_index = "${sample}.sorted.deduped.realigned.bam.bai"

}
}



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tasks/TNscope.wdl 查看文件

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task TNscope {

File ref_dir
File dbsnp_dir

String SENTIEON_INSTALL_DIR
String tumor_name
String normal_name
String docker
String cluster_config

String fasta
File corealigner_bam
File corealigner_bam_index
String dbsnp
String disk_size

command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${corealigner_bam} --algo TNscope --tumor_sample ${tumor_name} --normal_sample ${normal_name} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}.TNscope.TN.vcf
>>>

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

output {
File TNscope_vcf= "${sample}.TNscope.TN.vcf"
File TNscope_vcf_index = "${sample}.TNscope.TN.vcf.idx"
}

}

+ 43
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tasks/TNseq.wdl 查看文件

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task TNseq {
File ref_dir
File dbsnp_dir

String SENTIEON_INSTALL_DIR
String tumor_name
String normal_name
String docker
String cluster_config

String fasta
File corealigner_bam
File corealigner_bam_index
String dbsnp
String disk_size

command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${corealigner_bam} --algo TNhaplotyper --tumor_sample ${tumor_name} --normal_sample ${normal_name} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}.TNseq.TN.vcf
>>>

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

output {
File TNseq_vcf= "${sample}.TNseq.TN.vcf"
File TNseq_vcf_index = "${sample}.TNseq.TN.vcf.idx"
}

}



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tasks/corealigner.wdl 查看文件

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task corealigner {
File ref_dir
File dbsnp_dir
File dbmills_dir

String sample
String SENTIEON_INSTALL_DIR
String docker
String cluster_config
String fasta

String dbsnp
String db_mills
File tumor_recaled_bam
File tumor_recaled_bam_index
File normal_recaled_bam
File normal_recaled_bam_index
String disk_size


command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${tumor_recaled_bam} -i ${normal_recaled_bam} --algo Realigner -k ${db_mills} -k ${dbsnp} ${sample}_corealigned.bam
>>>
runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}

output {
File corealigner_bam = "${sample}_corealigned.bam"
File corealigner_bam_index = "${sample}_corealigned.bam.bai"
}
}




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tasks/deduped_Metrics.wdl 查看文件

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task deduped_Metrics {

File ref_dir
String SENTIEON_INSTALL_DIR
String sample
String fasta
File Dedup_bam
File Dedup_bam_index
String docker
String cluster_config
String disk_size


command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${Dedup_bam} --algo CoverageMetrics --omit_base_output ${sample}_deduped_coverage_metrics --algo MeanQualityByCycle ${sample}_deduped_mq_metrics.txt --algo QualDistribution ${sample}_deduped_qd_metrics.txt --algo GCBias --summary ${sample}_deduped_gc_summary.txt ${sample}_deduped_gc_metrics.txt --algo AlignmentStat ${sample}_deduped_aln_metrics.txt --algo InsertSizeMetricAlgo ${sample}_deduped_is_metrics.txt
>>>

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

output {
File deduped_coverage_metrics_sample_summary = "${sample}_deduped_coverage_metrics.sample_summary"
File deduped_coverage_metrics_sample_statistics = "${sample}_deduped_coverage_metrics.sample_statistics"
File deduped_coverage_metrics_sample_interval_statistics = "${sample}_deduped_coverage_metrics.sample_interval_statistics"
File deduped_coverage_metrics_sample_cumulative_coverage_proportions = "${sample}_deduped_coverage_metrics.sample_cumulative_coverage_proportions"
File deduped_coverage_metrics_sample_cumulative_coverage_counts = "${sample}_deduped_coverage_metrics.sample_cumulative_coverage_counts"
}
}

+ 34
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tasks/mapping.wdl 查看文件

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task mapping {

File ref_dir
String fasta
File fastq_1
File fastq_2

String SENTIEON_INSTALL_DIR
String group
String sample
String pl
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
export SENTIEON_LICENSE=192.168.0.55:8990
nt=$(nproc)
${SENTIEON_INSTALL_DIR}/bin/bwa mem -M -R "@RG\tID:${group}\tSM:${sample}\tPL:${pl}" -t $nt -K 10000000 ${ref_dir}/${fasta} ${fastq_1} ${fastq_2} | ${SENTIEON_INSTALL_DIR}/bin/sentieon util sort -o ${sample}.sorted.bam -t $nt --sam2bam -i -
>>>

runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File sorted_bam = "${sample}.sorted.bam"
File sorted_bam_index = "${sample}.sorted.bam.bai"
}
}

+ 36
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workflow.wdl 查看文件

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import "./tasks/Haplotyper.wdl" as Haplotyper


workflow {{ project_name }} {

File recaled_bam
File recaled_bam_index

String SENTIEON_INSTALL_DIR
String sample
String docker
String fasta
File ref_dir
File dbmills_dir
String db_mills
File dbsnp_dir
String dbsnp
String disk_size
String cluster_config

call Haplotyper.Haplotyper as Haplotyper {
input:
SENTIEON_INSTALL_DIR=SENTIEON_INSTALL_DIR,
fasta=fasta,
ref_dir=ref_dir,
recaled_bam=recaled_bam,
recaled_bam_index=recaled_bam_index,
dbsnp=dbsnp,
dbsnp_dir=dbsnp_dir,
sample=sample,
docker=docker,
disk_size=disk_size,
cluster_config=cluster_config
}
}

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