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Update: add vcf2vcf step into VEP

master
YaqingLiu 3 年之前
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78e9fe8191
共有 1 個檔案被更改,包括 22 行新增14 行删除
  1. +22
    -14
      tasks/VEP.wdl

+ 22
- 14
tasks/VEP.wdl 查看文件

@@ -22,20 +22,22 @@ task VEP {
set -e
nt=$(nproc)

awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${basename}.PASS.vcf
awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${sample_id}.vcf
ncol=`awk -F'\t' '{if($1!~"^#"){print NF}}' ${basename}.PASS.vcf | uniq`
# Judge the SAMPLE info of vcf file
ncol=`awk -F'\t' '{if($1!~"^#"){print NF}}' ${sample_id}.vcf | uniq`
if [ $ncol -lt 11 ]; then
vcf2maf_ID="--tumor-id ${tumor_id} --normal-id ${normal_id}"
SAMPLE="--tumor-id ${tumor_id} --normal-id ${normal_id}"
else
vcf2maf_ID="--tumor-id ${tumor_id}"
SAMPLE="--tumor-id ${sample_id}"
fi

nrow=`awk -F'\t' '{if($1~"^chr"){print $0}}' ${basename}.PASS.vcf | wc -l`
# Set the buffer_size based on the data size
nrow=`awk -F'\t' '{if($1~"^chr"){print $0}}' ${sample_id}.vcf | wc -l`
if [ $nrow -lt 5000 ]; then
buffer_size="--buffer_size 5000"
else
buffer_size="--buffer_size 500"
buffer_size="--buffer_size 1000"
fi

# Extract the BND variants from VCF
@@ -55,7 +57,7 @@ task VEP {

# vep
# perl ${vep_path}/vep \
# --input_file ${basename}.PASS.vcf --output_file ${basename}.PASS.vep.vcf \
# --input_file ${sample_id}.vcf --output_file ${basename}.PASS.vep.vcf \
# --fasta ${ref_dir}/${fasta} \
# --dir ${cache} \
# --assembly ${ncbi_build} \
@@ -68,6 +70,13 @@ task VEP {
# --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
# vcf2vcf: transfer into a standardized format
perl ${vcf2maf_path}/vcf2vcf.pl \
--input-vcf ${sample_id}.vcf --output-vcf ${basename}.norm.vcf \
$SAMPLE \
--ref-fasta ${reference}
# VEP annotation
perl ${vep_path}/vep --format vcf --vcf \
--assembly ${ncbi_build} \
--species ${species} \
@@ -75,14 +84,14 @@ task VEP {
--offline \
--cache --dir_cache ${cache} \
--fasta ${ref_dir}/${fasta} \
--input_file ${basename}.PASS.vcf --output_file ${basename}.PASS.vep.vcf
$buffer_size \
--input_file ${basename}.norm.vcf --output_file ${basename}.vep.vcf

# vcf2maf
perl ${vcf2maf_path}/vcf2maf.pl \
--inhibit-vep \
--input-vcf ${basename}.PASS.vep.vcf --output-maf ${basename}.PASS.maf \
$vcf2maf_ID \
--input-vcf ${basename}.vep.vcf --output-maf ${basename}.maf \
$SAMPLE \
--ref-fasta ${ref_dir}/${fasta} \
--ncbi-build ${ncbi_build} \
--species ${species} \
@@ -97,8 +106,7 @@ task VEP {
}

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

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