{ | |||||
"{{ project_name }}.sample": "{{ sample }}", | |||||
"{{ project_name }}.disk_size": "{{ disk_size }}", | |||||
"{{ project_name }}.cluster_config": "OnDemand bcs.b2.3xlarge img-ubuntu-vpc", | |||||
"{{ project_name }}.annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | |||||
"{{ project_name }}.database": "oss://chinese-quartet/quartet-storage-data/reference_data/annovar_hg38/", | |||||
"{{ project_name }}.hardfiltration_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/gatk:v2019.01", | |||||
"{{ project_name }}.vcf_file": "{{ vcf }}", | |||||
"{{ project_name }}.vcf_index": "{{ vcf_index }}" | |||||
} |
task Annovar { | |||||
File vcf_file | |||||
File database | |||||
String sample | |||||
String docker | |||||
String cluster_config | |||||
String disk_size | |||||
command <<< | |||||
nt=$(nproc) | |||||
/installations/annovar/table_annovar.pl ${vcf_file} ${database} -buildver hg38 -out ${sample} -remove -protocol refGene,ensGene,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad30_genome,1000g2015aug_all,clinvar_20190305,gnomad211_genome -operation g,g,f,f,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt | |||||
>>> | |||||
runtime { | |||||
docker:docker | |||||
cluster: cluster_config | |||||
systemDisk: "cloud_ssd 40" | |||||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||||
} | |||||
output { | |||||
File avinput = "${sample}.avinput" | |||||
File multianno_txt = "${sample}.hg38_multianno.txt" | |||||
File multianno_vcf = "${sample}.hg38_multianno.vcf" | |||||
} | |||||
} |
task Hardfiltration { | |||||
File vcf_file | |||||
File vcf_index | |||||
String sample | |||||
String docker | |||||
String disk_size | |||||
String cluster_config | |||||
command <<< | |||||
set -o pipefail | |||||
set -e | |||||
java -Dsamjdk.use_async_io_read_samtools=false -Dsamjdk.use_async_io_write_samtools=true -Dsamjdk.use_async_io_write_tribble=false -Dsamjdk.compression_level=2 -Xmx32G -jar /gatk/gatk-package-4.1.0.0-local.jar VariantFiltration -V ${vcf_file} -O ${sample}_hc_filtered.vcf --filter-expression "QD<2.0" --filter-name "LowQD" --filter-expression "MQ<40.0" --filter-name "LowMQ" --filter-expression "FS>60.0" --filter-name "FisherStrandBias" --filter-expression "HaplotypeScore>13.0" --filter-name "HighHapScore" --filter-expression "MQRankSum<-12.5" --filter-name "LowMQRankSum" --filter-expression "ReadPosRankSum<-8.0" --filter-name "LowReadPosRankSum" --cluster-size 3 --cluster-window-size 100 --filter-expression "MQ0 >= 4 && ((MQ0/(1.0*DP))>0.1)" --filter-name "HARD_TO_VALIDATE" --filter-expression "DP < 5" --filter-name "LowCoverage" --filter-expression "QUAL < 30.0" --filter-name "VeryLowQual" --filter-expression "QUAL > 30.0 && QUAL < 50.0" --filter-name "LowQual" | |||||
cat ${sample}_hc_filtered.vcf |grep "#" > ${sample}_hc_filtered.vcf.header.tmp | |||||
cat ${sample}_hc_filtered.vcf |grep PASS > ${sample}_hc_filtered.vcf.tmp | |||||
cat ${sample}_hc_filtered.vcf.header.tmp ${sample}_hc_filtered.vcf.tmp > ${sample}_hc_PASS.vcf | |||||
>>> | |||||
runtime { | |||||
docker:docker | |||||
cluster:cluster_config | |||||
systemDisk: "cloud_ssd 40" | |||||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||||
} | |||||
output { | |||||
File raw_vcf = "${sample}_hc_filtered.vcf" | |||||
File pass_vcf = "${sample}_hc_PASS.vcf" | |||||
} | |||||
} | |||||
import "./tasks/Hardfiltration.wdl" as Hardfiltration | |||||
import "./tasks/Annovar.wdl" as Annovar | |||||
workflow {{ project_name }} { | |||||
File vcf_file | |||||
File database | |||||
File vcf_index | |||||
String sample | |||||
String annovar_docker | |||||
String hardfiltration_docker | |||||
String cluster_config | |||||
String disk_size | |||||
call Hardfiltration.Hardfiltration as Hardfiltration { | |||||
input: | |||||
docker=hardfiltration_docker, | |||||
sample=sample, | |||||
vcf_index=vcf_index, | |||||
disk_size=disk_size, | |||||
vcf_file=vcf_file, | |||||
cluster_config=cluster_config | |||||
} | |||||
call Annovar.Annovar as Annovar { | |||||
input: | |||||
docker=annovar_docker, | |||||
database=database, | |||||
vcf_file=Hardfiltration.pass_vcf, | |||||
sample=sample, | |||||
cluster_config=cluster_config, | |||||
disk_size=disk_size | |||||
} | |||||
} |