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master
LUYAO REN 4 years ago
parent
commit
0820da178e
6 changed files with 169 additions and 313 deletions
  1. +14
    -0
      defaults
  2. +13
    -21
      inputs
  3. +5
    -4
      tasks/benchmark.wdl
  4. +23
    -0
      tasks/filter_bed.wdl
  5. +7
    -17
      tasks/quartet_mendelian.wdl
  6. +107
    -271
      workflow.wdl

+ 14
- 0
defaults View File

@@ -0,0 +1,14 @@
{
"benchmarking_dir": "oss://pgx-result/renluyao/manuscript_v3.0/reference_datasets_v202103/",
"fasta": "GRCh38.d1.vd1.fa",
"BENCHMARKdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-hap:latest",
"BEDTOOLSdocker": "registry-internal.cn-shanghai.aliyuncs.com/pgx-docker-registry/bedtools:v2.27.1",
"disk_size": "500",
"SMALLcluster_config": "OnDemand bcs.ps.g.xlarge img-ubuntu-vpc",
"bed": "{{ bed }}",
"BIGcluster_config": "OnDemand bcs.ps.g.2xlarge img-ubuntu-vpc",
"benchmark_region": "oss://pgx-result/renluyao/manuscript_v3.0/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed",
"MENDELIANdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1",
"DIYdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/high_confidence_call_manuscript:v1.4",
"ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/"
}

+ 13
- 21
inputs View File

@@ -1,24 +1,16 @@
{
"{{ project_name }}.benchmarking_dir": "oss://pgx-result/renluyao/manuscript_v3.0/reference_datasets_v202103/",
"{{ project_name }}.fasta": "GRCh38.d1.vd1.fa",
"{{ project_name }}.BENCHMARKdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-hap:latest",
"{{ project_name }}.LCL6_1": "{{ LCL6_1 }}",
"{{ project_name }}.LCL5_3": "{{ LCL5_3 }}",
"{{ project_name }}.LCL8_2": "{{ LCL8_2 }}",
"{{ project_name }}.disk_size": "500",
"{{ project_name }}.LCL8_1": "{{ LCL8_1 }}",
"{{ project_name }}.LCL6_3": "{{ LCL6_3 }}",
"{{ project_name }}.benchmarking_dir": "{{ benchmarking_dir }}",
"{{ project_name }}.fasta": "{{ fasta }}",
"{{ project_name }}.BENCHMARKdocker": "{{ BENCHMARKdocker }}",
"{{ project_name }}.BEDTOOLSdocker": "{{ BEDTOOLSdocker }}",
"{{ project_name }}.disk_size": "{{ disk_size }}",
"{{ project_name }}.inputSamplesFile": "{{ inputSamplesFile }}",
"{{ project_name }}.project": "{{ project }}",
"{{ project_name }}.LCL7_3": "{{ LCL7_3 }}",
"{{ project_name }}.LCL5_1": "{{ LCL5_1 }}",
"{{ project_name }}.SMALLcluster_config": "OnDemand bcs.ps.g.xlarge img-ubuntu-vpc",
"{{ project_name }}.LCL6_2": "{{ LCL6_2 }}",
"{{ project_name }}.BIGcluster_config": "OnDemand bcs.ps.g.2xlarge img-ubuntu-vpc",
"{{ project_name }}.LCL7_2": "{{ LCL7_2 }}",
"{{ project_name }}.LCL5_2": "{{ LCL5_2 }}",
"{{ project_name }}.LCL7_1": "{{ LCL7_1 }}",
"{{ project_name }}.MENDELIANdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1",
"{{ project_name }}.LCL8_3": "{{ LCL8_3 }}",
"{{ project_name }}.DIYdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/high_confidence_call_manuscript:v1.4",
"{{ project_name }}.ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/"
"{{ project_name }}.SMALLcluster_config": "{{ SMALLcluster_config }}",
"{{ project_name }}.bed": "{{ bed }}",
"{{ project_name }}.BIGcluster_config": "{{ BIGcluster_config }}",
"{{ project_name }}.benchmark_region": "{{ benchmark_region }}",
"{{ project_name }}.MENDELIANdocker": "{{ MENDELIANdocker }}",
"{{ project_name }}.DIYdocker": "{{ DIYdocker }}",
"{{ project_name }}.ref_dir": "{{ ref_dir }}"
}

+ 5
- 4
tasks/benchmark.wdl View File

@@ -2,6 +2,7 @@ task benchmark {
File vcf
File benchmarking_dir
File ref_dir
File filtered_bed
String sample = basename(vcf,".vcf")
String fasta
String docker
@@ -25,28 +26,28 @@ task benchmark {
echo -e "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tLCL8" > LCL8_name

if [[ ${sample} =~ "LCL5" ]];then
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL5.high.confidence.calls.vcf ${vcf} -f /cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL5.high.confidence.calls.vcf ${vcf} -f ${filtered_bed} --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
cat ${vcf} | grep '##' > header
cat ${vcf} | grep -v '#' > body
cat header LCL5_name body > LCL5.vcf
/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg bgzip LCL5.vcf -c > ${sample}.reformed.vcf.gz
/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg index -f vcf ${sample}.reformed.vcf.gz
elif [[ ${sample} =~ "LCL6" ]]; then
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL6.high.confidence.calls.vcf ${vcf} -f /cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL6.high.confidence.calls.vcf ${vcf} -f ${filtered_bed} --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
cat ${vcf} | grep '##' > header
cat ${vcf} | grep -v '#' > body
cat header LCL6_name body > LCL6.vcf
/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg bgzip LCL6.vcf -c > ${sample}.reformed.vcf.gz
/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg index -f vcf ${sample}.reformed.vcf.gz
elif [[ ${sample} =~ "LCL7" ]]; then
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL7.high.confidence.calls.vcf ${vcf} -f /cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL7.high.confidence.calls.vcf ${vcf} -f ${filtered_bed} --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
cat ${vcf} | grep '##' > header
cat ${vcf} | grep -v '#' > body
cat header LCL7_name body > LCL7.vcf
/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg bgzip LCL7.vcf -c > ${sample}.reformed.vcf.gz
/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg index -f vcf ${sample}.reformed.vcf.gz
elif [[ ${sample} =~ "LCL8" ]]; then
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL8.high.confidence.calls.vcf ${vcf} -f /cromwell_root/tmp/reference_datasets_v202103/Quartet.high.confidence.region.v202103.bed --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
/opt/hap.py/bin/hap.py /cromwell_root/tmp/reference_datasets_v202103/LCL8.high.confidence.calls.vcf ${vcf} -f ${filtered_bed} --threads $nt -o ${sample} -r ${ref_dir}/${fasta}
cat ${vcf} | grep '##' > header
cat ${vcf} | grep -v '#' > body
cat header LCL8_name body > LCL8.vcf

+ 23
- 0
tasks/filter_bed.wdl View File

@@ -0,0 +1,23 @@
task filter_bed {
File bed
File benchmark_region
String docker
String cluster_config
String disk_size
command <<<
/opt/ccdg/bedtools-2.27.1/bin/bedtools intersect -a ${benchmark_region} -b ${bed} > benchmark_region_query_bed.bed

>>>

runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File filtered_bed = "benchmark_region_query_bed.bed"
}
}

+ 7
- 17
tasks/quartet_mendelian.wdl View File

@@ -1,26 +1,16 @@
task quartet_mendelian {
File summary_1
File summary_2
File summary_3
File LCL5_hap_1
File LCL5_hap_2
File LCL5_hap_3
File LCL6_hap_1
File LCL6_hap_2
File LCL6_hap_3
File LCL7_hap_1
File LCL7_hap_2
File LCL7_hap_3
File LCL8_hap_1
File LCL8_hap_2
File LCL8_hap_3
Array[File] summary
Array[File] LCL5_hap
Array[File] LCL6_hap
Array[File] LCL7_hap
Array[File] LCL8_hap
String docker
String project
String cluster_config
String disk_size

command <<<
cat ${summary_1} ${summary_2} ${summary_3} | grep -v 'Family'> mendelian.summary
cat ${sep=" " summary} | grep -v 'Family'> mendelian.summary
sed '1iFamily\tTotal_Variants\tMendelian_Concordant_Variants\tMendelian_Concordance_Rate' mendelian.summary > mendelian.txt

cat mendelian.txt | grep 'INDEL' | cut -f4 | grep -v 'Mendelian_Concordance_Rate' | awk '{for(i=1;i<=NF;i++) {sum[i] += $i; sumsq[i] += ($i)^2}}
@@ -33,7 +23,7 @@ task quartet_mendelian {
printf "%f %f \n", sum[i]/NR, sqrt((sumsq[i]-sum[i]^2/NR)/NR)}
}' >> quartet_snv_aver-std.txt

cat ${LCL5_hap_1} ${LCL5_hap_2} ${LCL5_hap_3} ${LCL6_hap_1} ${LCL6_hap_2} ${LCL6_hap_3} ${LCL7_hap_1} ${LCL7_hap_2} ${LCL7_hap_3} ${LCL8_hap_1} ${LCL8_hap_2} ${LCL8_hap_3} | grep ALL | sed s'/,/\t/g' > hap.summary
cat ${sep=" " LCL5_hap} ${sep=" " LCL6_hap} ${sep=" " LCL7_hap} ${sep=" " LCL8_hap} | grep ALL | sed s'/,/\t/g' > hap.summary
sed '1i\Type\tFilter\tTRUTH.TOTAL\tTRUTH.TP\tTRUTH.FN\tQUERY.TOTAL\tQUERY.FP\tQUERY.UNK\tFP.gt\tMETRIC.Recall\tMETRIC.Precision\tMETRIC.Frac_NA\tMETRIC.F1_Score\tTRUTH.TOTAL.TiTv_ratio\tQUERY.TOTAL.TiTv_ratio\tTRUTH.TOTAL.het_hom_ratio\tQUERY.TOTAL.het_hom_ratio' hap.summary > precision_recall

python /opt/hap_summary.py -hap precision_recall -name ${project}

+ 107
- 271
workflow.wdl View File

@@ -1,34 +1,25 @@
import "./tasks/benchmark.wdl" as benchmark
import "./tasks/filter_bed.wdl" as filter_bed
import "./tasks/mendelian.wdl" as mendelian
import "./tasks/merge_mendelian.wdl" as merge_mendelian
import "./tasks/merge_family.wdl" as merge_family
import "./tasks/quartet_mendelian.wdl" as quartet_mendelian

workflow project_name {

workflow {{ project_name }} {

File LCL5_1
File LCL6_1
File LCL7_1
File LCL8_1

File LCL5_2
File LCL6_2
File LCL7_2
File LCL8_2

File LCL5_3
File LCL6_3
File LCL7_3
File LCL8_3
File inputSamplesFile
Array[Array[File]] inputSamples = read_tsv(inputSamplesFile)

String BENCHMARKdocker
String MENDELIANdocker
String DIYdocker
String BEDTOOLSdocker


String fasta
File ref_dir
File benchmark_region
File bed

File benchmarking_dir

@@ -38,267 +29,112 @@ workflow {{ project_name }} {
String BIGcluster_config
String SMALLcluster_config

call benchmark.benchmark as LCL5_1_benchmark {
input:
vcf=LCL5_1,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL5_2_benchmark {
input:
vcf=LCL5_2,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL5_3_benchmark {
input:
vcf=LCL5_3,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL6_1_benchmark {
input:
vcf=LCL6_1,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL6_2_benchmark {
input:
vcf=LCL6_2,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL6_3_benchmark {
input:
vcf=LCL6_3,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL7_1_benchmark {
input:
vcf=LCL7_1,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL7_2_benchmark {
input:
vcf=LCL7_2,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL7_3_benchmark {
input:
vcf=LCL7_3,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}


call benchmark.benchmark as LCL8_1_benchmark {
input:
vcf=LCL8_1,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL8_2_benchmark {
input:
vcf=LCL8_2,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call benchmark.benchmark as LCL8_3_benchmark {
input:
vcf=LCL8_3,
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call merge_family.merge_family as merge_family_1 {
call filter_bed.filter_bed as filter_bed {
input:
LCL5_vcf_gz=LCL5_1_benchmark.rtg_vcf,
LCL5_vcf_idx=LCL5_1_benchmark.rtg_vcf_index,
LCL6_vcf_gz=LCL6_1_benchmark.rtg_vcf,
LCL6_vcf_idx=LCL6_1_benchmark.rtg_vcf_index,
LCL7_vcf_gz=LCL7_1_benchmark.rtg_vcf,
LCL7_vcf_idx=LCL7_1_benchmark.rtg_vcf_index,
LCL8_vcf_gz=LCL8_1_benchmark.rtg_vcf,
LCL8_vcf_idx=LCL8_1_benchmark.rtg_vcf,
project=project,
rep="1",
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call merge_family.merge_family as merge_family_2 {
input:
LCL5_vcf_gz=LCL5_2_benchmark.rtg_vcf,
LCL5_vcf_idx=LCL5_2_benchmark.rtg_vcf_index,
LCL6_vcf_gz=LCL6_2_benchmark.rtg_vcf,
LCL6_vcf_idx=LCL6_2_benchmark.rtg_vcf_index,
LCL7_vcf_gz=LCL7_2_benchmark.rtg_vcf,
LCL7_vcf_idx=LCL7_2_benchmark.rtg_vcf_index,
LCL8_vcf_gz=LCL8_2_benchmark.rtg_vcf,
LCL8_vcf_idx=LCL8_2_benchmark.rtg_vcf,
project=project,
rep="2",
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call merge_family.merge_family as merge_family_3 {
input:
LCL5_vcf_gz=LCL5_3_benchmark.rtg_vcf,
LCL5_vcf_idx=LCL5_3_benchmark.rtg_vcf_index,
LCL6_vcf_gz=LCL6_3_benchmark.rtg_vcf,
LCL6_vcf_idx=LCL6_3_benchmark.rtg_vcf_index,
LCL7_vcf_gz=LCL7_3_benchmark.rtg_vcf,
LCL7_vcf_idx=LCL7_3_benchmark.rtg_vcf_index,
LCL8_vcf_gz=LCL8_3_benchmark.rtg_vcf,
LCL8_vcf_idx=LCL8_3_benchmark.rtg_vcf,
project=project,
rep="3",
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call mendelian.mendelian as mendelian_1 {
input:
family_vcf=merge_family_1.merged_vcf,
ref_dir=ref_dir,
fasta=fasta,
docker=MENDELIANdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call mendelian.mendelian as mendelian_2 {
input:
family_vcf=merge_family_2.merged_vcf,
ref_dir=ref_dir,
fasta=fasta,
docker=MENDELIANdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call mendelian.mendelian as mendelian_3 {
input:
family_vcf=merge_family_3.merged_vcf,
ref_dir=ref_dir,
fasta=fasta,
docker=MENDELIANdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call merge_mendelian.merge_mendelian as merge_mendelian_1 {
input:
D5_trio_vcf=mendelian_1.D5_trio_vcf,
D6_trio_vcf=mendelian_1.D6_trio_vcf,
family_vcf=merge_family_1.merged_vcf,
docker=DIYdocker,
bed=bed,
benchmark_region=benchmark_region,
docker=BEDTOOLSdocker,
cluster_config=SMALLcluster_config,
disk_size=disk_size
}

call merge_mendelian.merge_mendelian as merge_mendelian_2 {
input:
D5_trio_vcf=mendelian_2.D5_trio_vcf,
D6_trio_vcf=mendelian_2.D6_trio_vcf,
family_vcf=merge_family_2.merged_vcf,
docker=DIYdocker,
cluster_config=SMALLcluster_config,
disk_size=disk_size
}

call merge_mendelian.merge_mendelian as merge_mendelian_3 {
input:
D5_trio_vcf=mendelian_3.D5_trio_vcf,
D6_trio_vcf=mendelian_3.D6_trio_vcf,
family_vcf=merge_family_3.merged_vcf,
docker=DIYdocker,
cluster_config=SMALLcluster_config,
disk_size=disk_size
}

call quartet_mendelian.quartet_mendelian as quartet_mendelian{
input:
summary_1=merge_mendelian_1.project_mendelian_summary,
summary_2=merge_mendelian_2.project_mendelian_summary,
summary_3=merge_mendelian_3.project_mendelian_summary,
LCL5_hap_1=LCL5_1_benchmark.summary,
LCL5_hap_2=LCL5_2_benchmark.summary,
LCL5_hap_3=LCL5_3_benchmark.summary,
LCL6_hap_1=LCL6_1_benchmark.summary,
LCL6_hap_2=LCL6_2_benchmark.summary,
LCL6_hap_3=LCL6_3_benchmark.summary,
LCL7_hap_1=LCL7_1_benchmark.summary,
LCL7_hap_2=LCL7_2_benchmark.summary,
LCL7_hap_3=LCL7_3_benchmark.summary,
LCL8_hap_1=LCL8_1_benchmark.summary,
LCL8_hap_2=LCL8_2_benchmark.summary,
LCL8_hap_3=LCL8_3_benchmark.summary,
scatter (sample in inputSamples){

call benchmark.benchmark as LCL5_benchmark {
input:
vcf=sample[0],
benchmarking_dir=benchmarking_dir,
filtered_bed=filter_bed.filtered_bed,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call benchmark.benchmark as LCL6_benchmark {
input:
vcf=sample[1],
benchmarking_dir=benchmarking_dir,
filtered_bed=filter_bed.filtered_bed,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call benchmark.benchmark as LCL7_benchmark {
input:
vcf=sample[2],
benchmarking_dir=benchmarking_dir,
filtered_bed=filter_bed.filtered_bed,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call benchmark.benchmark as LCL8_benchmark {
input:
vcf=sample[3],
benchmarking_dir=benchmarking_dir,
filtered_bed=filter_bed.filtered_bed,
ref_dir=ref_dir,
fasta=fasta,
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call merge_family.merge_family as merge_family {
input:
LCL5_vcf_gz=LCL5_benchmark.rtg_vcf,
LCL5_vcf_idx=LCL5_benchmark.rtg_vcf_index,
LCL6_vcf_gz=LCL6_benchmark.rtg_vcf,
LCL6_vcf_idx=LCL6_benchmark.rtg_vcf_index,
LCL7_vcf_gz=LCL7_benchmark.rtg_vcf,
LCL7_vcf_idx=LCL7_benchmark.rtg_vcf_index,
LCL8_vcf_gz=LCL8_benchmark.rtg_vcf,
LCL8_vcf_idx=LCL8_benchmark.rtg_vcf,
project=project,
rep="1",
docker=BENCHMARKdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size,
}

call mendelian.mendelian as mendelian {
input:
family_vcf=merge_family.merged_vcf,
ref_dir=ref_dir,
fasta=fasta,
docker=MENDELIANdocker,
cluster_config=BIGcluster_config,
disk_size=disk_size
}

call merge_mendelian.merge_mendelian as merge_mendelian {
input:
D5_trio_vcf=mendelian.D5_trio_vcf,
D6_trio_vcf=mendelian.D6_trio_vcf,
family_vcf=merge_family.merged_vcf,
docker=DIYdocker,
cluster_config=SMALLcluster_config,
disk_size=disk_size
}

}

call quartet_mendelian.quartet_mendelian as quartet_mendelian {
input:
summary=merge_mendelian.project_mendelian_summary,
LCL5_hap=LCL5_benchmark.summary,
LCL6_hap=LCL6_benchmark.summary,
LCL7_hap=LCL7_benchmark.summary,
LCL8_hap=LCL8_benchmark.summary,
docker=DIYdocker,
project=project,
cluster_config=SMALLcluster_config,

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