@@ -23,7 +23,7 @@ choppy install renluyao/high_confidence_calls_intergration | |||
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)。 | |||
进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。 | |||
经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 | |||
@@ -1,7 +1,8 @@ | |||
{ | |||
"{{ 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 }}.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 }}.zipIndex.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-tools:latest", | |||
"{{ project_name }}.inputSamplesFile": "{{ inputSamplesFile }}", |
@@ -1,10 +1,7 @@ | |||
task mendelian { | |||
File LCL5_vcf | |||
File LCL6_vcf | |||
File sister_vcf | |||
File LCL7_vcf | |||
File LCL8_vcf | |||
String LCL5_name | |||
String LCL6_name | |||
String LCL7_name | |||
String LCL8_name | |||
String family_name | |||
@@ -17,18 +14,9 @@ task mendelian { | |||
command <<< | |||
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 | |||
/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 -v '#' | cut -f1-9,10 | grep 'MD=1' | grep -v '0/0' | cat mother_header - > ${LCL8_name}.sister.mendelian.gt.vcf | |||
@@ -48,10 +36,6 @@ task mendelian { | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File sister_consistent_vcf = "${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 = "${family_name}.sister.vbt.log.txt" | |||
Array[File] vbt_mendelian = glob("VBT/*") | |||
File mother_vcf = "${LCL8_name}.sister.mendelian.gt.vcf" | |||
File father_vcf = "${LCL7_name}.sister.mendelian.gt.vcf" |
@@ -9,6 +9,8 @@ task sister { | |||
String disk_size | |||
command <<< | |||
export LD_LIBRARY_PATH=/opt/htslib-1.9 | |||
mkdir sister | |||
vbt varcomp -called ${LCL5_vcf} -base ${LCL6_vcf} -ref ${ref_dir}/${fasta} -outDir sister -filter none | |||
@@ -1,4 +1,5 @@ | |||
import "./tasks/variantsNorm.wdl" as variantsNorm | |||
import "./tasks/sister.wdl" as sister | |||
import "./tasks/mendelian.wdl" as mendelian | |||
import "./tasks/zipIndex.wdl" as zipIndex | |||
import "./tasks/merge.wdl" as merge | |||
@@ -48,14 +49,21 @@ workflow {{ project_name }} { | |||
cluster_config=cluster_config, | |||
disk_size=disk_size | |||
} | |||
call mendelian.mendelian as mendelian { | |||
input: | |||
call sister.sister as sister{ | |||
input: | |||
LCL5_vcf=LCL5variantsNorm.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, | |||
LCL8_vcf=LCL8variantsNorm.normed_vcf, | |||
LCL5_name=sample[4], | |||
LCL6_name=sample[5], | |||
LCL7_name=sample[6], | |||
LCL8_name=sample[7], | |||
family_name=sample[8], |