ソースを参照

first commit

master
LUYAO REN 5年前
コミット
6d85d4ef49
19個のファイルの変更598行の追加0行の削除
  1. +94
    -0
      fastq_screen.conf
  2. +3
    -0
      inputSamplesFileExamples.tsv
  3. +74
    -0
      inputs
  4. バイナリ
      pictures/.DS_Store
  5. バイナリ
      pictures/Picture1.png
  6. バイナリ
      pictures/Screen Shot 2019-07-30 at 12.14.00 AM.png
  7. バイナリ
      pictures/Screen Shot 2019-07-31 at 12.40.56 AM.png
  8. バイナリ
      pictures/density.png
  9. バイナリ
      pictures/workflow2.png
  10. +59
    -0
      tasks/benchmark.wdl
  11. +28
    -0
      tasks/fastqc.wdl
  12. +36
    -0
      tasks/fastqscreen.wdl
  13. +26
    -0
      tasks/mergeNum.wdl
  14. +40
    -0
      tasks/mergeSentieon.wdl
  15. +48
    -0
      tasks/multiqc.wdl
  16. +27
    -0
      tasks/qualimap.wdl
  17. +41
    -0
      tasks/sentieon.wdl
  18. +25
    -0
      tasks/vcfstat.wdl
  19. +97
    -0
      workflow.wdl

+ 94
- 0
fastq_screen.conf ファイルの表示

@@ -0,0 +1,94 @@
# This is an example configuration file for FastQ Screen

############################
## Bowtie, Bowtie 2 or BWA #
############################
## If the Bowtie, Bowtie 2 or BWA binary is not in your PATH, you can set
## this value to tell the program where to find your chosen aligner. Uncomment
## the relevant line below and set the appropriate location. Please note,
## this path should INCLUDE the executable filename.

#BOWTIE /usr/local/bin/bowtie/bowtie
#BOWTIE2 /usr/local/bowtie2/bowtie2
#BWA /usr/local/bwa/bwa



############################################
## Bismark (for bisulfite sequencing only) #
############################################
## If the Bismark binary is not in your PATH then you can set this value to
## tell the program where to find it. Uncomment the line below and set the
## appropriate location. Please note, this path should INCLUDE the executable
## filename.

#BISMARK /usr/local/bin/bismark/bismark



############
## Threads #
############
## Genome aligners can be made to run across multiple CPU cores to speed up
## searches. Set this value to the number of cores you want for mapping reads.

THREADS 32



##############
## DATABASES #
##############
## This section enables you to configure multiple genomes databases (aligner index
## files) to search against in your screen. For each genome you need to provide a
## database name (which can't contain spaces) and the location of the aligner index
## files.
##
## The path to the index files SHOULD INCLUDE THE BASENAME of the index, e.g:
## /data/public/Genomes/Human_Bowtie/GRCh37/Homo_sapiens.GRCh37
## Thus, the index files (Homo_sapiens.GRCh37.1.bt2, Homo_sapiens.GRCh37.2.bt2, etc.)
## are found in a folder named 'GRCh37'.
##
## If, for example, the Bowtie, Bowtie2 and BWA indices of a given genome reside in
## the SAME FOLDER, a SINLGE path may be provided to ALL the of indices. The index
## used will be the one compatible with the chosen aligner (as specified using the
## --aligner flag).
##
## The entries shown below are only suggested examples, you can add as many DATABASE
## sections as required, and you can comment out or remove as many of the existing
## entries as desired. We suggest including genomes and sequences that may be sources
## of contamination either because they where run on your sequencer previously, or may
## have contaminated your sample during the library preparation step.
##
## Human - sequences available from
## ftp://ftp.ensembl.org/pub/current/fasta/homo_sapiens/dna/
#DATABASE Human /data/public/Genomes/Human_Bowtie/GRCh37/Homo_sapiens.GRCh37
##
## Mouse - sequence available from
## ftp://ftp.ensembl.org/pub/current/fasta/mus_musculus/dna/
#DATABASE Mouse /data/public/Genomes/Mouse/NCBIM37/Mus_musculus.NCBIM37
##
## Ecoli- sequence available from EMBL accession U00096.2
#DATABASE Ecoli /data/public/Genomes/Ecoli/Ecoli
##
## PhiX - sequence available from Refseq accession NC_001422.1
#DATABASE PhiX /data/public/Genomes/PhiX/phi_plus_SNPs
##
## Adapters - sequence derived from the FastQC contaminats file found at: www.bioinformatics.babraham.ac.uk/projects/fastqc
#DATABASE Adapters /data/public/Genomes/Contaminants/Contaminants
##
## Vector - Sequence taken from the UniVec database
## http://www.ncbi.nlm.nih.gov/VecScreen/UniVec.html
#DATABASE Vectors /data/public/Genomes/Vectors/Vectors

DATABASE Human /cromwell_root/tmp/fastq_screen_reference/genome
DATABASE Mouse /cromwell_root/tmp/fastq_screen_reference/mouse
DATABASE ERCC /cromwell_root/tmp/fastq_screen_reference/ERCC
DATABASE EColi /cromwell_root/tmp/fastq_screen_reference/ecoli
DATABASE Adapter /cromwell_root/tmp/fastq_screen_reference/adapters
DATABASE Vector /cromwell_root/tmp/fastq_screen_reference/vector
DATABASE rRNA /cromwell_root/tmp/fastq_screen_reference/rRNARef
DATABASE Virus /cromwell_root/tmp/fastq_screen_reference/viral
DATABASE Yeast /cromwell_root/tmp/fastq_screen_reference/GCF_000146045.2_R64_genomic_modify
DATABASE Mitoch /cromwell_root/tmp/fastq_screen_reference/Human_mitoch
DATABASE Phix /cromwell_root/tmp/fastq_screen_reference/phix

+ 3
- 0
inputSamplesFileExamples.tsv ファイルの表示

@@ -0,0 +1,3 @@
#read1 #read2 #bam #bai #vcf #sample_mark #sample_name #_aln.metrics.txt #_dedup_metrics.txt #_is_metrics.txt #_deduped_coverage_metrics.sample_summary
oss://chinese-quartet/quartet-test-data/fastqfiles/Fudan_DNA_LCL5_R1.fastq.gz oss://chinese-quartet/quartet-test-data/fastqfiles/Fudan_DNA_LCL5_R2.fastq.gz oss://choppy-cromwell-result/test-choppy/wgs_quartettest_renluyao_0827/7a72d0e6-302d-43ca-b6b0-daeaa0236d06/call-Dedup/Fudan_DNA_LCL5.sorted.deduped.bam oss://choppy-cromwell-result/test-choppy/wgs_quartettest_renluyao_0827/7a72d0e6-302d-43ca-b6b0-daeaa0236d06/call-Dedup/Fudan_DNA_LCL5.sorted.deduped.bam.bai oss://choppy-cromwell-result/test-choppy/wgs_quartettest_renluyao_0827/7a72d0e6-302d-43ca-b6b0-daeaa0236d06/call-Haplotyper/Fudan_DNA_LCL5_hc.vcf LCL5
oss://chinese-quartet/quartet-test-data/fastqfiles/Fudan_DNA_LCL6_R1.fastq.gz oss://chinese-quartet/quartet-test-data/fastqfiles/Fudan_DNA_LCL6_R2.fastq.gz oss://choppy-cromwell-result/test-choppy/wgs_quartettest_renluyao_0827/e85d0acb-f750-48b7-87e6-f28766dd16b9/call-Dedup/Fudan_DNA_LCL6.sorted.deduped.bam oss://choppy-cromwell-result/test-choppy/wgs_quartettest_renluyao_0827/e85d0acb-f750-48b7-87e6-f28766dd16b9/call-Dedup/Fudan_DNA_LCL6.sorted.deduped.bam.bai oss://choppy-cromwell-result/test-choppy/wgs_quartettest_renluyao_0827/e85d0acb-f750-48b7-87e6-f28766dd16b9/call-Haplotyper/Fudan_DNA_LCL6_hc.vcf LCL6

+ 74
- 0
inputs ファイルの表示

@@ -0,0 +1,74 @@
{
"{{ project_name }}.benchmarking_dir": "oss://chinese-quartet/quartet-result-data/NCTR_benchmarking_20181215/",
"{{ project_name }}.vcfstat.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-hap:latest",
"{{ project_name }}.fasta": "GRCh38.d1.vd1.fa",
"{{ project_name }}.fastqc.disk_size": "150",
"{{ project_name }}.benchmark.cluster_config": "OnDemand ecs.sn1ne.4xlarge img-ubuntu-vpc",
"{{ project_name }}.mergeJI.disk_size": "100",
"{{ project_name }}.fastqscreen.cluster_config": "OnDemand ecs.sn1ne.4xlarge img-ubuntu-vpc",
"{{ project_name }}.fastqc.cluster_config": "OnDemand ecs.sn1ne.4xlarge img-ubuntu-vpc",
"{{ project_name }}.inputJIpiarsFile": "{{ inputJIpiarsFile }}",
"{{ project_name }}.benchmark.disk_size": "150",
"{{ project_name }}.vcfstat.disk_size": "100",
"{{ project_name }}.fastqc.docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/fastqc:v0.11.5",
"{{ project_name }}.mergeJI.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-tools:latest",
"{{ project_name }}.benchmark.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-hap:latest",
"{{ project_name }}.inputSamplesFile": "{{ inputSamplesFile }}",
"{{ project_name }}.mergeJI.cluster_config": "OnDemand ecs.sn1ne.xlarge img-ubuntu-vpc",
"{{ project_name }}.fastqscreen.docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/fastqscreen:0.12.0",
"{{ project_name }}.mergeNum.docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/gatk:v2019.01",
"{{ project_name }}.JI.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-hap:latest",
"{{ project_name }}.screen_ref_dir": "oss://pgx-reference-data/fastq_screen_reference/",
"{{ project_name }}.mergeNum.disk_size": "100",
"{{ project_name }}.JI.disk_size": "100",
"{{ project_name }}.fastq_screen_conf": "oss://pgx-reference-data/fastq_screen_reference/fastq_screen.conf",
"{{ project_name }}.multiqc.cluster_config": "OnDemand ecs.sn1ne.4xlarge img-ubuntu-vpc",
"{{ project_name }}.sdf": "oss://chinese-quartet/quartet-storage-data/reference_data/GRCh38.d1.vd1.sdf/",
"{{ project_name }}.multiqc.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/multiqc:v1.8",
"{{ project_name }}.mergeNum.cluster_config": "OnDemand ecs.sn1ne.xlarge img-ubuntu-vpc",
"{{ project_name }}.bamqc.cluster_config": "OnDemand ecs.sn1ne.8xlarge img-ubuntu-vpc",
"{{ project_name }}.vcfstat.cluster_config": "OnDemand ecs.sn1ne.4xlarge img-ubuntu-vpc",
"{{ project_name }}.JI.cluster_config": "OnDemand ecs.sn1ne.4xlarge img-ubuntu-vpc",
"{{ project_name }}.fastqscreen.disk_size": "100",
"{{ project_name }}.bamqc.disk_size": "500",
"{{ project_name }}.multiqc.disk_size": "100",
"{{ project_name }}.bamqc.docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/qualimap:2.0.0",
"{{ project_name }}.ref_dir": "oss://chinese-quartet/quartet-storage-data/reference_data/"
}

{
"project_name.benchmarking_dir": "File",
"project_name.vcfstat.docker": "String",
"project_name.qualimap.docker": "String",
"project_name.qualimap.cluster_config": "String",
"project_name.fasta": "String",
"project_name.fastqc.disk_size": "String",
"project_name.mergeSentieon.docker": "String",
"project_name.benchmark.cluster_config": "String",
"project_name.sentieon.docker": "String",
"project_name.fastqscreen.cluster_config": "String",
"project_name.fastqc.cluster_config": "String",
"project_name.benchmark.disk_size": "String",
"project_name.vcfstat.disk_size": "String",
"project_name.fastqc.docker": "String",
"project_name.sentieon.cluster_config": "String",
"project_name.benchmark.docker": "String",
"project_name.inputSamplesFile": "File",
"project_name.fastqscreen.docker": "String",
"project_name.mergeNum.docker": "String",
"project_name.screen_ref_dir": "File",
"project_name.mergeNum.disk_size": "String",
"project_name.fastq_screen_conf": "File",
"project_name.multiqc.cluster_config": "String",
"project_name.qualimap.disk_size": "String",
"project_name.sdf": "File",
"project_name.multiqc.docker": "String",
"project_name.mergeNum.cluster_config": "String",
"project_name.mergeSentieon.disk_size": "String",
"project_name.sentieon.disk_size": "String",
"project_name.vcfstat.cluster_config": "String",
"project_name.mergeSentieon.cluster_config": "String",
"project_name.fastqscreen.disk_size": "String",
"project_name.multiqc.disk_size": "String",
"project_name.ref_dir": "File"
}

バイナリ
pictures/.DS_Store ファイルの表示


バイナリ
pictures/Picture1.png ファイルの表示

変更前 変更後
幅: 1122  |  高さ: 622  |  サイズ: 240KB

バイナリ
pictures/Screen Shot 2019-07-30 at 12.14.00 AM.png ファイルの表示

変更前 変更後
幅: 1144  |  高さ: 772  |  サイズ: 79KB

バイナリ
pictures/Screen Shot 2019-07-31 at 12.40.56 AM.png ファイルの表示

変更前 変更後
幅: 1322  |  高さ: 1340  |  サイズ: 502KB

バイナリ
pictures/density.png ファイルの表示

変更前 変更後
幅: 1256  |  高さ: 800  |  サイズ: 94KB

バイナリ
pictures/workflow2.png ファイルの表示

変更前 変更後
幅: 1594  |  高さ: 810  |  サイズ: 271KB

+ 59
- 0
tasks/benchmark.wdl ファイルの表示

@@ -0,0 +1,59 @@
task benchmark {
File vcf
File benchmarking_dir
File ref_dir
String sample = basename(vcf,".vcf")
String sample_mark
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/

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

/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg bgzip ${vcf} -c > ${sample}.rtg.vcf.gz
/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg index -f vcf ${sample}.rtg.vcf.gz

if [ ${sample_mark} == "LCL5" ];then
/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL5.vcf.gz ${sample}.rtg.vcf.gz --threads $nt -o ${sample}
elif [ ${sample_mark} == "LCL6" ]; then
/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL6.vcf.gz ${sample}.rtg.vcf.gz --threads $nt -o ${sample}
elif [ ${sample_mark} == "LCL7" ]; then
/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL7.vcf.gz ${sample}.rtg.vcf.gz --threads $nt -o ${sample}
elif [ ${sample_mark} == "LCL8" ]; then
/opt/hap.py/bin/hap.py ${benchmarking_dir}/LCL8.vcf.gz ${sample}.rtg.vcf.gz --threads $nt -o ${sample}
else
echo "only for quartet samples"
fi
>>>

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

output {
File rtg_vcf = "${sample}.rtg.vcf.gz"
File rtg_vcf_index = "${sample}.rtg.vcf.gz.tbi"
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"
}
}

+ 28
- 0
tasks/fastqc.wdl ファイルの表示

@@ -0,0 +1,28 @@
task fastqc {
File read1
File read2
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
nt=$(nproc)
fastqc -t $nt -o ./ ${read1}
fastqc -t $nt -o ./ ${read2}
>>>

runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File read1_html = sub(basename(read1), "\\.(fastq|fq)\\.gz$", "_fastqc.html")
File read1_zip = sub(basename(read1), "\\.(fastq|fq)\\.gz$", "_fastqc.zip")
File read2_html = sub(basename(read2), "\\.(fastq|fq)\\.gz$", "_fastqc.html")
File read2_zip = sub(basename(read2), "\\.(fastq|fq)\\.gz$", "_fastqc.zip")
}
}

+ 36
- 0
tasks/fastqscreen.wdl ファイルの表示

@@ -0,0 +1,36 @@
task fastq_screen {
File read1
File read2
File screen_ref_dir
File fastq_screen_conf
String read1name = basename(read1,".fastq.gz")
String read2name = basename(read2,".fastq.gz")
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
nt=$(nproc)
mkdir -p /cromwell_root/tmp
cp -r ${screen_ref_dir} /cromwell_root/tmp/
fastq_screen --aligner bowtie2 --conf ${fastq_screen_conf} --top 100000 --threads $nt ${read1}
fastq_screen --aligner bowtie2 --conf ${fastq_screen_conf} --top 100000 --threads $nt ${read2}
>>>

runtime {
docker:docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File png1 = "${read1name}_screen.png"
File txt1 = "${read1name}_screen.txt"
File html1 = "${read1name}_screen.html"
File png2 = "${read2name}_screen.png"
File txt2 = "${read2name}_screen.txt"
File html2 = "${read2name}_screen.html"
}
}

+ 26
- 0
tasks/mergeNum.wdl ファイルの表示

@@ -0,0 +1,26 @@
task mergeNum {
Array[File] vcfnumber
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
for i in ${sep=" " vcfnumber}
do
cat $i | cut -d':' -f2 | tr '\n' '\t' | sed s'/\t$/\n/g' >> vcfstats
done
sed '1i\File\tFailed Filters\tPassed Filters\tSNPs\tMNPs\tInsertions\tDeletions\tIndels\tSame as reference\tSNP Transitions/Transversions\tTotal Het/Hom ratio\tSNP Het/Hom ratio\tMNP Het/Hom ratio\tInsertion Het/Hom ratio\tDeletion Het/Hom ratio\tIndel Het/Hom ratio\tInsertion/Deletion ratio\tIndel/SNP+MNP ratio' vcfstats > vcfstats.txt
>>>

runtime {
docker:docker
cluster:cluster_config
systemDisk:"cloud_ssd 40"
dataDisk:"cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File vcfstat="vcfstats.txt"
}
}

+ 40
- 0
tasks/mergeSentieon.wdl ファイルの表示

@@ -0,0 +1,40 @@
task mergeSentieon {
Array[File] aln_metrics_header
Array[File] aln_metrics_data

Array[File] dedup_metrics_header
Array[File] dedup_metrics_data

Array[File] is_metrics_header
Array[File] is_metrics_data

Array[File] deduped_coverage_header
Array[File] deduped_coverage_data

String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
cat ${aln_metrics_header} | sed -n '1,1p' | cat - ${aln_metrics_data} > aln_metrics.txt
cat ${dedup_metrics_header} | sed -n '1,1p' | cat - ${dedup_metrics_data} > dedup_metrics.txt
cat ${is_metrics_header} | sed -n '1,1p' | cat - ${is_metrics_data} > is_metrics.txt
cat ${deduped_coverage_header} | sed -n '1,1p' | cat - ${deduped_coverage_data} > deduped_coverage.txt
>>>

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

output {
File aln_metrics_merge = "aln_metrics.txt"
File dedup_metrics_merge = "dedup_metrics.txt"
File is_metrics_merge = "is_metrics.txt"
File deduped_coverage_merge = "deduped_coverage.txt"
}
}

+ 48
- 0
tasks/multiqc.wdl ファイルの表示

@@ -0,0 +1,48 @@
task multiqc {

Array[File] read1_zip
Array[File] read2_zip

Array[File] txt1
Array[File] txt2

Array[File] zip

Array[File] summary

String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
mkdir -p /cromwell_root/tmp/fastqc
mkdir -p /cromwell_root/tmp/fastqscreen
mkdir -p /cromwell_root/tmp/bamqc
mkdir -p /cromwell_root/tmp/benchmark

cp ${sep=" " read1_zip} ${sep=" " read2_zip} /cromwell_root/tmp/fastqc
cp ${sep=" " txt1} ${sep=" " txt2} /cromwell_root/tmp/fastqscreen
cp ${sep=" " summary} /cromwell_root/tmp/benchmark
for i in ${sep=" " zip}
do
tar -zxvf $i -C /cromwell_root/tmp/bamqc
done

multiqc /cromwell_root/tmp/
>>>

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

output {
File multiqc_html = "multiqc_report.html"
Array[File] multiqc_txt = glob("multiqc_data/*")
}
}

+ 27
- 0
tasks/qualimap.wdl ファイルの表示

@@ -0,0 +1,27 @@
task qualimap {
File bam
File bai
String bamname = basename(bam,".bam")
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
nt=$(nproc)
/opt/qualimap/qualimap bamqc -bam ${bam} -outformat PDF:HTML -nt $nt -outdir ${bamname} --java-mem-size=32G
tar -zcvf ${bamname}_qualimap.zip ${bamname}
>>>

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

output {
File zip = "${bamname}_qualimap.zip"
}
}

+ 41
- 0
tasks/sentieon.wdl ファイルの表示

@@ -0,0 +1,41 @@
task sentieon {
File aln_metrics
File dedup_metrics
File is_metrics
File deduped_coverage
String sample_name
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e
cat ${aln_metrics} | sed -n '2,2p' > aln_metrics.header
cat ${aln_metrics} | sed -n '2,2p' > ${sample_name}.aln_metrics
cat ${dedup_metrics} | sed -n '2,2p' > dedup_metrics.header
cat ${dedup_metrics} | sed -n '3,3p' > ${sample_name}.dedup_metrics
cat ${is_metrics} | sed -n '2,2p' > is_metrics.header
cat ${is_metrics} | sed -n '3,3p' > ${sample_name}.is_metrics
cat ${deduped_coverage} | sed -n '1,1p' > deduped_coverage.header
cat ${deduped_coverage} | sed -n '2,2p' > ${sample_name}.deduped_coverage
>>>

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

output {
File aln_metrics_header = "aln_metrics.header"
File aln_metrics_data = "${sample_name}.aln_metrics"
File dedup_metrics_header = "dedup_metrics.header"
File dedup_metrics_data = "${sample_name}.dedup_metrics"
File is_metrics_header = "is_metrics.header"
File is_metrics_data = "${sample_name}.is_metrics"
File deduped_coverage_header = "deduped_coverage.header"
File deduped_coverage_data = "${sample_name}.deduped_coverage"
}
}

+ 25
- 0
tasks/vcfstat.wdl ファイルの表示

@@ -0,0 +1,25 @@
task vcfstat {
File rtg_vcf
File rtg_vcf_index
String sample_name
String docker
String cluster_config
String disk_size

command <<<
set -o pipefail
set -e

/opt/rtg-tools/dist/rtg-tools-3.10.1-4d58ead/rtg vcfstats ${rtg_vcf} > ${sample_name}.stats.txt
>>>

runtime {
docker:docker
cluster:cluster_config
systemDisk:"cloud_ssd 40"
dataDisk:"cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File vcfnumber="${sample_name}.stats.txt"
}
}

+ 97
- 0
workflow.wdl ファイルの表示

@@ -0,0 +1,97 @@
import "./tasks/fastqc.wdl" as fastqc
import "./tasks/fastqscreen.wdl" as fastqscreen
import "./tasks/qualimap.wdl" as qualimap
import "./tasks/benchmark.wdl" as benchmark
import "./tasks/vcfstat.wdl" as vcfstat
import "./tasks/sentieon.wdl" as sentieon
import "./tasks/multiqc.wdl" as multiqc
import "./tasks/mergeNum.wdl" as mergeNum
import "./tasks/mergeSentieon.wdl" as mergeSentieon


workflow project_name {

File inputSamplesFile
Array[Array[File]] inputSamples = read_tsv(inputSamplesFile)
File screen_ref_dir
File fastq_screen_conf
File benchmarking_dir
File ref_dir
String fasta
File sdf

scatter (sample in inputSamples) {
call fastqc.fastqc as fastqc {
input:
read1=sample[0],
read2=sample[1]
}

call fastqscreen.fastq_screen as fastqscreen {
input:
read1=sample[0],
read2=sample[1],
screen_ref_dir=screen_ref_dir,
fastq_screen_conf=fastq_screen_conf
}

call qualimap.qualimap as qualimap {
input:
bam=sample[2],
bai=sample[3]
}

call benchmark.benchmark as benchmark {
input:
vcf=sample[4],
benchmarking_dir=benchmarking_dir,
ref_dir=ref_dir,
sample_mark=sample[5],
fasta=fasta
}

call vcfstat.vcfstat as vcfstat {
input:
rtg_vcf=benchmark.rtg_vcf,
rtg_vcf_index=benchmark.rtg_vcf_index,
sample_name=sample[6]
}

call sentieon.sentieon as sentieon {
input:
aln_metrics=sample[7],
dedup_metrics=sample[8],
is_metrics=sample[9],
deduped_coverage=sample[10],
sample_name=sample[6]
}

}
call multiqc.multiqc as multiqc {
input:
read1_zip=fastqc.read1_zip,
read2_zip=fastqc.read2_zip,
txt1=fastqscreen.txt1,
txt2=fastqscreen.txt2,
zip=qualimap.zip,
summary=benchmark.summary
}

call mergeNum.mergeNum as mergeNum {
input:
vcfnumber=vcfstat.vcfnumber
}

call mergeSentieon.mergeSentieon as mergeSentieon {
input:
aln_metrics_header=sentieon.aln_metrics_header,
aln_metrics_data=sentieon.aln_metrics_data,
dedup_metrics_header=sentieon.dedup_metrics_header,
dedup_metrics_data=sentieon.dedup_metrics_data,
is_metrics_header=sentieon.is_metrics_header,
is_metrics_data=sentieon.is_metrics_data,
deduped_coverage_header=sentieon.deduped_coverage_header,
deduped_coverage_data=sentieon.deduped_coverage_data
}
}


読み込み中…
キャンセル
保存