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liuruimei 3 years ago
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      README.md
  2. +14
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      defaults
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      inputs
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      workflow.wdl

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README.md View File


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defaults View File

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{
"benchmarking_dir": "oss://pgx-result/renluyao/manuscript_v3.0/NIST/",
"fasta": "GRCh38.d1.vd1.fa",
"BENCHMARKdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-hap:latest",
"disk_size": "200",
"SMALLcluster_config": "OnDemand bcs.ps.g.xlarge img-ubuntu-vpc",
"screen_ref_dir": "oss://pgx-reference-data/fastq_screen_reference/",
"benchmark_region": "oss://pgx-result/renluyao/manuscript_v3.0/NIST/HG001_GRCh38_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_nosomaticdel_noCENorHET7.bed",
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"BIGcluster_config": "OnDemand bcs.a2.7xlarge img-ubuntu-vpc",
"ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"filtered_bed":"oss://pgx-result/renluyao/manuscript_v3.0/NIST/HG001_GRCh38_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_nosomaticdel_noCENorHET7.bed"
}


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inputs View File

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{
"{{ project_name }}.benchmarking_dir": "{{ benchmarking_dir }}",
"{{ project_name }}.fasta": "{{ fasta }}",
"{{ project_name }}.vcf": "{{ vcf }}",
"{{ project_name }}.BENCHMARKdocker": "{{ BENCHMARKdocker }}",
"{{ project_name }}.disk_size": "{{ disk_size }}",
"{{ project_name }}.sample_name": "{{ sample_name }}",
"{{ project_name }}.SMALLcluster_config": "{{ SMALLcluster_config }}",
"{{ project_name }}.screen_ref_dir": "{{ screen_ref_dir }}",
"{{ project_name }}.filtered_bed": "{{ filtered_bed }}",
"{{ project_name }}.BIGcluster_config": "{{ BIGcluster_config }}",
"{{ project_name }}.benchmark_region": "{{ benchmark_region }}",
"{{ project_name }}.ref_dir": "{{ ref_dir }}"
}

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tasks/benchmark.wdl View File

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task benchmark {

File vcf
File benchmarking_dir
File ref_dir
File filtered_bed
String sample
String fasta
String docker
String cluster_config
String disk_size


command <<<
set -o pipefail
set -e
nt=$(nproc)
mkdir -p /cromwell_root/tmp
cp -r ${ref_dir} /cromwell_root/tmp/
cp -r ${benchmarking_dir} /cromwell_root/tmp/

export HGREF=/cromwell_root/tmp/reference_data/GRCh38.d1.vd1.fa


/opt/hap.py/bin/hap.py /cromwell_root/tmp/NIST/HG001_GRCh38_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_PGandRTGphasetransfer.vcf ${vcf} -f ${filtered_bed} --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
>>>

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

output {
File gzip_vcf = "${sample}.vcf.gz"
File gzip_vcf_index = "${sample}.vcf.gz.tbi"
File roc_all_csv = "${sample}.roc.all.csv.gz"
File roc_indel = "${sample}.roc.Locations.INDEL.csv.gz"
File roc_indel_pass = "${sample}.roc.Locations.INDEL.PASS.csv.gz"
File roc_snp = "${sample}.roc.Locations.SNP.csv.gz"
File roc_snp_pass = "${sample}.roc.Locations.SNP.PASS.csv.gz"
File summary = "${sample}.summary.csv"
File extended = "${sample}.extended.csv"
File metrics = "${sample}.metrics.json.gz"
}
}

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workflow.wdl View File

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import "./tasks/benchmark.wdl" as benchmark

workflow {{ project_name }} {
File vcf
File benchmarking_dir
File ref_dir
File filtered_bed
String sample
String fasta
String BENCHMARKdocker
String BIGcluster_config
String disk_size


call benchmark.benchmark as benchmark {
input:
vcf=vcf,
sample=sample,
benchmarking_dir=benchmarking_dir,
filtered_bed=filtered_bed,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}
}


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