YaqingLiu 4 лет назад
Родитель
Сommit
a06abfc5cf
5 измененных файлов: 18 добавлений и 10 удалений
  1. +1
    -0
      defaults
  2. +1
    -0
      inputs
  3. +4
    -3
      tasks/annovar.wdl
  4. +8
    -6
      tasks/somaticFilter.wdl
  5. +4
    -1
      workflow.wdl

+ 1
- 0
defaults Просмотреть файл

"SENTIEON_LICENSE": "192.168.0.55:8990", "SENTIEON_LICENSE": "192.168.0.55:8990",
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", "dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", "db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
"hg": "hg38",
"database": "oss://pgx-reference-data/annovar_hg38/", "database": "oss://pgx-reference-data/annovar_hg38/",
"germline_resource": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz", "germline_resource": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz",
"germline_resource_tbi": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz.tbi", "germline_resource_tbi": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz.tbi",

+ 1
- 0
inputs Просмотреть файл

"{{ project_name }}.germline_resource_tbi": "{{ germline_resource_tbi }}", "{{ project_name }}.germline_resource_tbi": "{{ germline_resource_tbi }}",
"{{ project_name }}.regions": "{{ regions }}", "{{ project_name }}.regions": "{{ regions }}",
"{{ project_name }}.interval_padding": "{{ interval_padding }}", "{{ project_name }}.interval_padding": "{{ interval_padding }}",
"{{ project_name }}.hg": "{{ hg }}",
"{{ project_name }}.database": "{{ database }}", "{{ project_name }}.database": "{{ database }}",
"{{ project_name }}.tnseq_pon": "{{ tnseq_pon }}", "{{ project_name }}.tnseq_pon": "{{ tnseq_pon }}",
"{{ project_name }}.tnscope_pon": "{{ tnscope_pon }}", "{{ project_name }}.tnscope_pon": "{{ tnscope_pon }}",

+ 4
- 3
tasks/annovar.wdl Просмотреть файл

String sample String sample
File vcf File vcf
String annotated_vcf = basename(vcf,".vcf") String annotated_vcf = basename(vcf,".vcf")
String hg
File database File database
String docker String docker
String cluster_config String cluster_config
set -o pipefail set -o pipefail
set -e set -e
nt=$(nproc) nt=$(nproc)
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver hg38 -out ${annotated_vcf} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20200316 -operation g,r,r,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver ${hg} -hgvs -out ${annotated_vcf} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20200316 -operation g,r,r,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt
>>> >>>
runtime { runtime {


output { output {
File avinput = "${annotated_vcf}.avinput" File avinput = "${annotated_vcf}.avinput"
File multianno_txt = "${annotated_vcf}.hg38_multianno.txt"
File multianno = "${annotated_vcf}.hg38_multianno.vcf"
File multianno_txt = "${annotated_vcf}.multianno.txt"
File multianno = "${annotated_vcf}.multianno.vcf"
} }
} }

+ 8
- 6
tasks/somaticFilter.wdl Просмотреть файл

java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_germline_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.Germline.filter.vcf java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_germline_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.Germline.filter.vcf


java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_loh_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.LOH.filter.vcf java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_loh_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.LOH.filter.vcf

# Merge SNP and INDEL
awk '{if ($1!~/^#/) print}' ${sample}.VarScan.TN.SNP.Somatic.filter.vcf | cat - ${sample}.VarScan.TN.INDEL.Somatic.filter.vcf > ${sample}.VarScan.TN.Somatic.filter.vcf
awk '{if ($1!~/^#/) print}' ${sample}.VarScan.TN.SNP.Germline.filter.vcf | cat - ${sample}.VarScan.TN.INDEL.Germline.filter.vcf > ${sample}.VarScan.TN.Germline.filter.vcf
awk '{if ($1!~/^#/) print}' ${sample}.VarScan.TN.SNP.LOH.filter.vcf | cat - ${sample}.VarScan.TN.INDEL.LOH.filter.vcf > ${sample}.VarScan.TN.LOH.filter.vcf
>>> >>>


runtime { runtime {
} }


output { output {
File varscan_snp_somatic_filter = "${sample}.VarScan.TN.SNP.Somatic.filter.vcf"
File varscan_snp_germline_filter = "${sample}.VarScan.TN.SNP.Germline.filter.vcf"
File varscan_snp_loh_filter = "${sample}.VarScan.TN.SNP.LOH.filter.vcf"
File varscan_indel_somatic_filter = "${sample}.VarScan.TN.INDEL.Somatic.filter.vcf"
File varscan_indel_germline_filter = "${sample}.VarScan.TN.INDEL.Germline.filter.vcf"
File varscan_indel_loh_filter = "${sample}.VarScan.TN.INDEL.LOH.filter.vcf"
File varscan_snp_somatic_filter = "${sample}.VarScan.TN.Somatic.filter.vcf"
File varscan_snp_germline_filter = "${sample}.VarScan.TN.Germline.filter.vcf"
File varscan_snp_loh_filter = "${sample}.VarScan.TN.LOH.filter.vcf"
} }
} }

+ 4
- 1
workflow.wdl Просмотреть файл

String dbsnp String dbsnp
File germline_resource File germline_resource
File germline_resource_tbi File germline_resource_tbi
String hg
File database File database
File? regions File? regions
input: input:
sample=sample_id, sample=sample_id,
vcf=TNseq.TNseq_vcf, vcf=TNseq.TNseq_vcf,
hg=hg,
database=database, database=database,
docker=annovar_docker, docker=annovar_docker,
cluster_config=cluster_config, cluster_config=cluster_config,
input: input:
sample=sample_id, sample=sample_id,
vcf=TNscope.TNscope_vcf, vcf=TNscope.TNscope_vcf,
hg=hg,
database=database, database=database,
docker=annovar_docker, docker=annovar_docker,
cluster_config=cluster_config, cluster_config=cluster_config,
normal_bam_index=normal_BQSR.recaled_bam_index, normal_bam_index=normal_BQSR.recaled_bam_index,
ref_dir=ref_dir, ref_dir=ref_dir,
fasta=fasta, fasta=fasta,
docker=varscan_docker,
docker=varscan_docker,
disk_size=disk_size, disk_size=disk_size,
cluster_config=cluster_config cluster_config=cluster_config
} }

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