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Update: ANNOVAR

master
YaqingLiu hace 4 años
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d925a41571
Se han modificado 4 ficheros con 19 adiciones y 12 borrados
  1. +1
    -1
      defaults
  2. +1
    -1
      inputs
  3. +13
    -6
      tasks/annovar.wdl
  4. +4
    -4
      workflow.wdl

+ 1
- 1
defaults Ver fichero

"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", "hg": "hg38",
"database": "oss://pgx-reference-data/annovar_hg38/",
"annovar_database": "oss://pgx-reference-data/annovar/",
"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",
"regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Padded.bed", "regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Padded.bed",

+ 1
- 1
inputs Ver fichero

"{{ 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 }}.hg": "{{ hg }}",
"{{ project_name }}.database": "{{ database }}",
"{{ project_name }}.annovar_database": "{{ annovar_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 }}",
"{{ project_name }}.disk_size": "{{ disk_size }}", "{{ project_name }}.disk_size": "{{ disk_size }}",

+ 13
- 6
tasks/annovar.wdl Ver fichero

task ANNOVAR { task ANNOVAR {


File vcf File vcf
String annotated_vcf = basename(vcf,".vcf")
String basename = basename(vcf,".vcf")
String hg String hg
File database
File annovar_database
String docker String docker
String cluster_config String cluster_config
String disk_size String disk_size
set -o pipefail set -o pipefail
set -e set -e
nt=$(nproc) nt=$(nproc)
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver ${hg} -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

if [ ${hg} == "hg38" ]; then
/installations/annovar/table_annovar.pl ${vcf} ${annovar_database} -buildver ${hg} -out ${basename} -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
fi

if [ ${hg} == "hg19" ]; then
/installations/annovar/table_annovar.pl ${vcf} ${annovar_database} -buildver ${hg} -out ${basename} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,snp138,cosmic78,intervar_20170202,popfreq_all_20150413,clinvar_20190305 -operation g,r,r,f,f,f,f,f,f -nastring . -vcfinput -thread $nt
fi
>>> >>>
runtime { runtime {
} }


output { output {
File avinput = "${annotated_vcf}.avinput"
File multianno_txt = "${annotated_vcf}.${hg}_multianno.txt"
File multianno = "${annotated_vcf}.${hg}_multianno.vcf"
File avinput = "${basename}.avinput"
File multianno_txt = "${basename}.${hg}_multianno.txt"
File multianno_vcf = "${basename}.${hg}_multianno.vcf"
} }
} }

+ 4
- 4
workflow.wdl Ver fichero

File germline_resource File germline_resource
File germline_resource_tbi File germline_resource_tbi
String hg String hg
File database
File annovar_database
File? regions File? regions
Int? interval_padding Int? interval_padding
input: input:
vcf=TNseq.TNseq_vcf, vcf=TNseq.TNseq_vcf,
hg=hg, hg=hg,
database=database,
annovar_database=annovar_database,
docker=annovar_docker, docker=annovar_docker,
cluster_config=cluster_config, cluster_config=cluster_config,
disk_size=disk_size disk_size=disk_size
input: input:
vcf=TNscope.TNscope_vcf, vcf=TNscope.TNscope_vcf,
hg=hg, hg=hg,
database=database,
annovar_database=annovar_database,
docker=annovar_docker, docker=annovar_docker,
cluster_config=cluster_config, cluster_config=cluster_config,
disk_size=disk_size disk_size=disk_size
input: input:
vcf=somaticFilter.varscan_somatic_filter, vcf=somaticFilter.varscan_somatic_filter,
hg=hg, hg=hg,
database=database,
annovar_database=annovar_database,
docker=annovar_docker, docker=annovar_docker,
cluster_config=cluster_config, cluster_config=cluster_config,
disk_size=disk_size disk_size=disk_size

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