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sister and family seprate

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LUYAO REN 5 年之前
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共有 5 個檔案被更改,包括 19 行新增24 行删除
  1. +1
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      README.md
  2. +2
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      inputs
  3. +2
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      tasks/mendelian.wdl
  4. +2
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      tasks/sister.wdl
  5. +12
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      workflow.wdl

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README.md 查看文件



Quartet家系的四个样本的DNA标准物质被送往多加测序公司,用PCRfree或者PCR的建库方法建立3个技术重复,用多个测序平台(Illumina XTen、Illumina Novaseq、BGISEQ-500、BGISEQ-2000和BGISEQ-T7)进行测序。获得的原始数据用多个分析流程进行分析(比对软件:BWA-mem、Novoalign、Bowtie2,突变检出软件:HaplotyperCaller、Strelka2、FreeBayes)。 Quartet家系的四个样本的DNA标准物质被送往多加测序公司,用PCRfree或者PCR的建库方法建立3个技术重复,用多个测序平台(Illumina XTen、Illumina Novaseq、BGISEQ-500、BGISEQ-2000和BGISEQ-T7)进行测序。获得的原始数据用多个分析流程进行分析(比对软件:BWA-mem、Novoalign、Bowtie2,突变检出软件:HaplotyperCaller、Strelka2、FreeBayes)。


过以上各种因素的组合每个样本得到216个VCF文件,本APP的目的是整合这些VCF文件的结果得到一组可信度较高的突变。
过以上各种因素的组合每个样本得到216个VCF文件,本APP的目的是整合这些VCF文件的结果得到一组可信度较高的突变。


## 流程与参数 ## 流程与参数



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inputs 查看文件

{ {
"{{ project_name }}.fasta": "GRCh38.d1.vd1.fa", "{{ project_name }}.fasta": "GRCh38.d1.vd1.fa",
"{{ project_name }}.sister.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1",
"{{ project_name }}.mendelian.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1", "{{ project_name }}.mendelian.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1",
"{{ project_name }}.disk_size": "100",
"{{ project_name }}.disk_size": "150",
"{{ project_name }}.merge.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-tools:latest", "{{ project_name }}.merge.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-tools:latest",
"{{ project_name }}.zipIndex.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-tools:latest", "{{ project_name }}.zipIndex.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-tools:latest",
"{{ project_name }}.inputSamplesFile": "{{ inputSamplesFile }}", "{{ project_name }}.inputSamplesFile": "{{ inputSamplesFile }}",

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tasks/mendelian.wdl 查看文件

task mendelian { task mendelian {
File LCL5_vcf
File LCL6_vcf
File sister_vcf
File LCL7_vcf File LCL7_vcf
File LCL8_vcf File LCL8_vcf
String LCL5_name
String LCL6_name
String LCL7_name String LCL7_name
String LCL8_name String LCL8_name
String family_name String family_name
command <<< command <<<
export LD_LIBRARY_PATH=/opt/htslib-1.9 export LD_LIBRARY_PATH=/opt/htslib-1.9


mkdir sister

/opt/VBT-TrioAnalysis/vbt varcomp -called ${LCL5_vcf} -base ${LCL6_vcf} -ref ${ref_dir}/${fasta} -outDir sister -filter none

mv sister/TPBase.vcf ${family_name}.sister.consistent.vcf
mv sister/FP.vcf ${family_name}.LCL5.uniq.vcf
mv sister/FN.vcf ${family_name}.LCL6.uniq.vcf
mv sister/log.txt ${family_name}.sister.vbt.log.txt

mkdir VBT mkdir VBT


/opt/VBT-TrioAnalysis/vbt mendelian -ref ${ref_dir}/${fasta} -mother ${LCL8_vcf} -father ${LCL7_vcf} -child ${family_name}.sister.consistent.vcf -outDir VBT -out-prefix ${family_name} --output-violation-regions
/opt/VBT-TrioAnalysis/vbt mendelian -ref ${ref_dir}/${fasta} -mother ${LCL8_vcf} -father ${LCL7_vcf} -child ${sister_vcf} -outDir VBT -out-prefix ${family_name} --output-violation-regions


cat VBT/${family_name}_trio.vcf | grep '#' | cut -f1-9,10 > mother_header cat VBT/${family_name}_trio.vcf | grep '#' | cut -f1-9,10 > mother_header
cat VBT/${family_name}_trio.vcf | grep -v '#' | cut -f1-9,10 | grep 'MD=1' | grep -v '0/0' | cat mother_header - > ${LCL8_name}.sister.mendelian.gt.vcf cat VBT/${family_name}_trio.vcf | grep -v '#' | cut -f1-9,10 | grep 'MD=1' | grep -v '0/0' | cat mother_header - > ${LCL8_name}.sister.mendelian.gt.vcf
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
} }
output { output {
File sister_consistent_vcf = "${family_name}.sister.consistent.vcf"
File LCL5_uniq_vcf = "${family_name}.LCL5.uniq.vcf"
File LCL6_uniq_vcf = "${family_name}.LCL6.uniq.vcf"
File sister_log = "${family_name}.sister.vbt.log.txt"
Array[File] vbt_mendelian = glob("VBT/*") Array[File] vbt_mendelian = glob("VBT/*")
File mother_vcf = "${LCL8_name}.sister.mendelian.gt.vcf" File mother_vcf = "${LCL8_name}.sister.mendelian.gt.vcf"
File father_vcf = "${LCL7_name}.sister.mendelian.gt.vcf" File father_vcf = "${LCL7_name}.sister.mendelian.gt.vcf"

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tasks/sister.wdl 查看文件

String disk_size String disk_size
command <<< command <<<
export LD_LIBRARY_PATH=/opt/htslib-1.9

mkdir sister mkdir sister
vbt varcomp -called ${LCL5_vcf} -base ${LCL6_vcf} -ref ${ref_dir}/${fasta} -outDir sister -filter none vbt varcomp -called ${LCL5_vcf} -base ${LCL6_vcf} -ref ${ref_dir}/${fasta} -outDir sister -filter none



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workflow.wdl 查看文件

import "./tasks/variantsNorm.wdl" as variantsNorm import "./tasks/variantsNorm.wdl" as variantsNorm
import "./tasks/sister.wdl" as sister
import "./tasks/mendelian.wdl" as mendelian import "./tasks/mendelian.wdl" as mendelian
import "./tasks/zipIndex.wdl" as zipIndex import "./tasks/zipIndex.wdl" as zipIndex
import "./tasks/merge.wdl" as merge import "./tasks/merge.wdl" as merge
cluster_config=cluster_config, cluster_config=cluster_config,
disk_size=disk_size disk_size=disk_size
} }
call mendelian.mendelian as mendelian {
input:
call sister.sister as sister{
input:
LCL5_vcf=LCL5variantsNorm.normed_vcf, LCL5_vcf=LCL5variantsNorm.normed_vcf,
LCL6_vcf=LCL6variantsNorm.normed_vcf, LCL6_vcf=LCL6variantsNorm.normed_vcf,
ref_dir=ref_dir,
fasta=fasta,
family_name=sample[8],
cluster_config=cluster_config,
disk_size=disk_size
}
call mendelian.mendelian as mendelian {
input:
sister_vcf=sister.sister_consistent_vcf,
LCL7_vcf=LCL7variantsNorm.normed_vcf, LCL7_vcf=LCL7variantsNorm.normed_vcf,
LCL8_vcf=LCL8variantsNorm.normed_vcf, LCL8_vcf=LCL8variantsNorm.normed_vcf,
LCL5_name=sample[4],
LCL6_name=sample[5],
LCL7_name=sample[6], LCL7_name=sample[6],
LCL8_name=sample[7], LCL8_name=sample[7],
family_name=sample[8], family_name=sample[8],

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