Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
Nevar pievienot vairāk kā 25 tēmas
Tēmai ir jāsākas ar burtu vai ciparu, tā var saturēt domu zīmes ('-') un var būt līdz 35 simboliem gara.
|
- task Pindel {
-
- String sample_id
- File bam
- File bam_index
- File ref_dir
- String fasta
-
- String docker
- String cluster_config
- String disk_size
-
- command <<<
-
- set -o pipefail
- set -e
-
- mkdir ./pindel_result/
- mkdir ./input
-
- cp ${bam} ./input
-
- bam_file_name=`echo ${bam}|awk -F "/" '{print $NF}'`
-
- samtools index -@ 4 ./input/$bam_file_name
-
- java "-Xmx16G" -jar /software/picard/picard.jar CollectInsertSizeMetrics \
- -H ./pindel_result/${sample_id}_picard.pdf \
- -I ./input/$bam_file_name \
- -O ./pindel_result/${sample_id}_picard.txt
-
- temp_mean_insert_size=`cat pindel_result/${sample_id}_picard.txt|sed -n '8p'|cut -f 6|cut -d . -f 1`
- if [ $temp_mean_insert_size -lt 151 ];then
- mean_insert_size=151
- else
- mean_insert_size=`echo $temp_mean_insert_size`
- fi
-
- bam_file_name=`echo ${bam}|awk -F "/" '{print $NF}'`
-
- echo -e "./input/$bam_file_name\t$mean_insert_size\t${sample_id}" > ${sample_id}_config.txt
-
- pindel -i ${sample_id}_config.txt \
- -f ${ref_dir}/${fasta} \
- -o ./pindel_result/${sample_id} \
- -c all \
- -T 4 \
- -x 4 \
- -l \
- -B 0 \
- -M 3 \
- -J /software/picard/hg38_ucsc_centromere.bed
-
- grep "ChrID" pindel_result/${sample_id}_SI > pindel_result/${sample_id}_all_indel
- grep "ChrID" pindel_result/${sample_id}_D >> pindel_result/${sample_id}_all_indel
-
- awk -v chrID="chr1" '$8==chrID {print}' pindel_result/${sample_id}_all_indel > pindel_result/${sample_id}_indel
-
- for i in `seq 2 22` X Y M
- do
- awk -v chrID=chr$i '$8==chrID {print}' pindel_result/${sample_id}_all_indel >> pindel_result/${sample_id}_indel
- done
-
- pindel2vcf -r ${ref_dir}/${fasta} \
- -R GRCh38.d1.vd1 \
- -d GDC \
- -p pindel_result/${sample_id}_indel \
- -v pindel_result/${sample_id}.pindel.indel.vcf
-
- >>>
-
- runtime {
- docker: docker
- cluster: cluster_config
- systemDisk: "cloud_ssd 40"
- dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
- }
-
- output {
- Array[File] pindel_result = glob("./pindel_result/${sample_id}*")
- }
- }
|