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test VEP

master
YaqingLiu pirms 3 gadiem
vecāks
revīzija
045245f812
1 mainītis faili ar 9 papildinājumiem un 16 dzēšanām
  1. +9
    -16
      tasks/VEP.wdl

+ 9
- 16
tasks/VEP.wdl Parādīt failu

@@ -23,19 +23,15 @@ task VEP {
set -e
nt=$(nproc)

if [ only_pass ]; then
awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${sample_id}.INPUT.vcf
else
cp ${vcf} ${sample_id}.INPUT.vcf
fi

awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${sample_id}.PASS.vcf
# Extract the BND variants from VCF
# awk -F'\t' '{if(($1~"^#")||($8!~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.INPUT.vcf > ${sample_id}.INPUT.vcf2maf.vcf
# awk -F'\t' '{if(($1~"^#")||($8~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.INPUT.vcf > ${sample_id}.INPUT.VEP.vcf
# awk -F'\t' '{if(($1~"^#")||($8!~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.PASS.vcf > ${sample_id}.PASS.vcf2maf.vcf
# awk -F'\t' '{if(($1~"^#")||($8~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.PASS.vcf > ${sample_id}.INPUT.VEP.vcf

# vcf2maf
# perl ${vcf2maf_path}/vcf2maf.pl \
# --input-vcf ${sample_id}.INPUT.vcf2maf.vcf --output-maf ${basename}.maf \
# --input-vcf ${sample_id}.PASS.vcf2maf.vcf --output-maf ${basename}.maf \
# --tumor-id ${tumor_id} --normal-id ${normal_id} \
# --ref-fasta ${ref_dir}/${fasta} \
# --vep-path ${vep_path} \
@@ -46,13 +42,14 @@ task VEP {

# vep
perl ${vep_path}/vep \
--input_file ${sample_id}.INPUT.vcf --output_file ${basename}.vep.vcf \
--input_file ${sample_id}.PASS.vcf --output_file ${basename}.vep.vcf \
--fasta ${ref_dir}/${fasta} \
--dir ${cache} \
--assembly ${ncbi_build} \
--species ${species} \
--fork $nt \
--no_progress --no_stats --buffer_size 5000 --sift b --ccds --uniprot --hgvs --symbol --numbers --domains --gene_phenotype --canonical --protein --biotype --uniprot --tsl --variant_class --shift_hgvs 1 --check_existing --total_length --allele_number --no_escape --xref_refseq --failed 1 --tab --flag_pick_allele --pick_order canonical,tsl,biotype,rank,ccds,length --format vcf --force_overwrite --offline --pubmed --regulatory
--format vcf --vcf \
--no_progress --no_stats --buffer_size 5000 --sift b --ccds --uniprot --hgvs --symbol --numbers --domains --gene_phenotype --canonical --protein --biotype --uniprot --tsl --variant_class --shift_hgvs 1 --check_existing --total_length --allele_number --no_escape --xref_refseq --failed 1 --flag_pick_allele --pick_order canonical,tsl,biotype,rank,ccds,length --force_overwrite --offline --pubmed --regulatory

# vcf2maf
perl ${vcf2maf_path}/vcf2maf.pl \
@@ -60,10 +57,6 @@ task VEP {
--input-vcf ${basename}.vep.vcf --output-maf ${basename}.maf \
--tumor-id ${tumor_id} --normal-id ${normal_id} \
--ref-fasta ${ref_dir}/${fasta} \
--vep-path ${vep_path} \
--vep-data ${cache} \
--ncbi-build ${ncbi_build} \
--species ${species} \
--vep-fork $nt
>>>
@@ -75,7 +68,7 @@ task VEP {
}

output {
File input_vcf = "${sample_id}.INPUT.vcf"
File input_vcf = "${sample_id}.PASS.vcf"
File vep_vcf = "${basename}.vep.vcf"
File maf = "${basename}.maf"
}

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