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Update: ANNOVAR

master
YaqingLiu 4 jaren geleden
bovenliggende
commit
d925a41571
4 gewijzigde bestanden met toevoegingen van 19 en 12 verwijderingen
  1. +1
    -1
      defaults
  2. +1
    -1
      inputs
  3. +13
    -6
      tasks/annovar.wdl
  4. +4
    -4
      workflow.wdl

+ 1
- 1
defaults Bestand weergeven

@@ -10,7 +10,7 @@
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
"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_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",

+ 1
- 1
inputs Bestand weergeven

@@ -20,7 +20,7 @@
"{{ project_name }}.regions": "{{ regions }}",
"{{ project_name }}.interval_padding": "{{ interval_padding }}",
"{{ project_name }}.hg": "{{ hg }}",
"{{ project_name }}.database": "{{ database }}",
"{{ project_name }}.annovar_database": "{{ annovar_database }}",
"{{ project_name }}.tnseq_pon": "{{ tnseq_pon }}",
"{{ project_name }}.tnscope_pon": "{{ tnscope_pon }}",
"{{ project_name }}.disk_size": "{{ disk_size }}",

+ 13
- 6
tasks/annovar.wdl Bestand weergeven

@@ -1,9 +1,9 @@
task ANNOVAR {

File vcf
String annotated_vcf = basename(vcf,".vcf")
String basename = basename(vcf,".vcf")
String hg
File database
File annovar_database
String docker
String cluster_config
String disk_size
@@ -13,7 +13,14 @@ task ANNOVAR {
set -o pipefail
set -e
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 {
@@ -24,8 +31,8 @@ task ANNOVAR {
}

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 Bestand weergeven

@@ -35,7 +35,7 @@ workflow {{ project_name }} {
File germline_resource
File germline_resource_tbi
String hg
File database
File annovar_database
File? regions
Int? interval_padding
@@ -255,7 +255,7 @@ workflow {{ project_name }} {
input:
vcf=TNseq.TNseq_vcf,
hg=hg,
database=database,
annovar_database=annovar_database,
docker=annovar_docker,
cluster_config=cluster_config,
disk_size=disk_size
@@ -294,7 +294,7 @@ workflow {{ project_name }} {
input:
vcf=TNscope.TNscope_vcf,
hg=hg,
database=database,
annovar_database=annovar_database,
docker=annovar_docker,
cluster_config=cluster_config,
disk_size=disk_size
@@ -347,7 +347,7 @@ workflow {{ project_name }} {
input:
vcf=somaticFilter.varscan_somatic_filter,
hg=hg,
database=database,
annovar_database=annovar_database,
docker=annovar_docker,
cluster_config=cluster_config,
disk_size=disk_size

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