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共有 4 個文件被更改,包括 166 次插入2 次删除
  1. +1
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      README.md
  2. +29
    -0
      defaults
  3. +27
    -0
      inputs
  4. +109
    -0
      workflow.wdl

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README.md 查看文件

# Fastq2Bam
# wgs_somatic_pipeline_v1


将fastq转换成bam文件,并用qualimap对BAM文件进行质控

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defaults 查看文件

{
"normal_in1":"",
"normal_in2":"",
"tumor_in1":"",
"tumor_in2":"",
"sample_id":"",
"Seq_platform":"Illumina",
"ref_fasta":"GRCh38.d1.vd1.fa",
"ref_fasta_dir":"oss://hcc1395/reference_genome/GRCh38.d1.vd1/",
"docker_fastp":"registry-vpc.cn-shanghai.aliyuncs.com/easygene/fastp:v0.20.1_cv1",
"docker_sentieon":"registry-vpc.cn-shanghai.aliyuncs.com/hcc1395_aliyun/sentieon-genomics:v202112.05",
"docker_qualimap":"registry.cn-shanghai.aliyuncs.com/hcc1395_aliyun/qualimap:2.0.0",
"docker_manta":"registry.cn-shanghai.aliyuncs.com/hcc1395_aliyun/manta:v1.6.0",
"docker_strelka":"registry.cn-shanghai.aliyuncs.com/hcc1395_aliyun/strelka:v2.9.10",
"SENTIEON_LICENSE":"172.25.2.5:8990",
"cluster_config":"OnDemand ecs.c6.large img-ubuntu-vpc",
"disk_size":"500",
"fastqc":false,
"annot_gff":"oss://hcc1395/reference_genome/gencode.v36.annotation.gff",
"dbsnp_dir":"oss://hcc1395/reference_genome/GRCh38.d1.vd1/",
"dbmills_dir":"oss://hcc1395/reference_genome/GRCh38.d1.vd1/",
"dbsnp":"dbsnp_146.hg38.vcf",
"db_mills":"Mills_and_1000G_gold_standard.indels.hg38.vcf",
"bamqc":true,
"germline_resource":"oss://hcc1395/reference_genome/gnomAD/af-only-gnomad.v3.1.1.vcf.gz",
"germline_resource_tbi":"oss://hcc1395/reference_genome/gnomAD/af-only-gnomad.v3.1.1.vcf.gz.tbi"


}

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inputs 查看文件

{
"{{ project_name }}.sample_id": "{{ sample_id }}",
"{{ project_name }}.normal_in1": "{{ normal_in1 }}",
"{{ project_name }}.normal_in2": "{{ normal_in2 }}",
"{{ project_name }}.tumor_in1": "{{ tumor_in1 }}",
"{{ project_name }}.tumor_in2": "{{ tumor_in2 }}",
"{{ project_name }}.Seq_platform": "{{ Seq_platform }}",
"{{ project_name }}.ref_fasta": "{{ ref_fasta }}",
"{{ project_name }}.ref_fasta_dir": "{{ ref_fasta_dir }}",
"{{ project_name }}.fastqc": {{ fastqc | tojson }},
"{{ project_name }}.cluster_config": "{{cluster_config }}",
"{{ project_name }}.disk_size": "{{ disk_size }}",
"{{ project_name }}.docker_fastp": "{{ docker_fastp }}",
"{{ project_name }}.docker_sentieon": "{{ docker_sentieon }}",
"{{ project_name }}.SENTIEON_LICENSE": "{{ SENTIEON_LICENSE }}",
"{{ project_name }}.docker_qualimap": "{{ docker_qualimap }}",
"{{ project_name }}.annot_gff": "{{ annot_gff }}",
"{{ project_name }}.dbsnp_dir": "{{ dbsnp_dir }}",
"{{ project_name }}.dbmills_dir": "{{ dbmills_dir }}",
"{{ project_name }}.dbsnp": "{{ dbsnp }}",
"{{ project_name }}.db_mills": "{{ db_mills }}",
"{{ project_name }}.bamqc": {{ bamqc | tojson }},
"{{ project_name }}.germline_resource": "{{ germline_resource }}",
"{{ project_name }}.germline_resource_tbi": "{{ germline_resource_tbi }}",
"{{ project_name }}.docker_manta": "{{ docker_manta }}",
"{{ project_name }}.docker_strelka": "{{ docker_strelka }}"
}

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workflow.wdl 查看文件

#Only for BamQC
import "./tasks/fastqTobam.wdl" as fastqTobam
import "./tasks/qualimap.wdl" as qualimap
import "./tasks/BQSR.wdl" as Sentieon_BQSR
import "./tasks/TNseq.wdl" as TNseq
import "./tasks/TNscope.wdl" as TNscope
import "./tasks/manta.wdl" as manta_calling
import "./tasks/strelka.wdl" as strelka_calling


workflow {{ project_name }} {
#sample info
File? normal_in1
File? normal_in2
File? tumor_in1
File? tumor_in2
String sample_id
String Seq_platform
#reference fasta
String ref_fasta
File ref_fasta_dir
File annot_gff
File dbsnp_dir
File dbmills_dir
String dbsnp
String db_mills
File germline_resource
File germline_resource_tbi

#docker
String docker_fastp
String docker_sentieon
String SENTIEON_LICENSE
String docker_qualimap
String docker_manta
String docker_strelka

#config
String cluster_config
String disk_size
Boolean? fastqc
Boolean bamqc


if (normal_in1 != ""){
call fastqTobam.SentieonFastqToBam as SentieonFastqToBam_normal{
input:
fastq1=normal_in1,
fastq2=normal_in2,
sample_id=sample_id+'_N',
Seq_platform=Seq_platform,
ref_fasta=ref_fasta,
ref_fasta_dir=ref_fasta_dir,
SENTIEON_LICENSE=SENTIEON_LICENSE,
docker=docker_sentieon,
cluster_config=cluster_config,
disk_size=disk_size

}

call qualimap.qualimap as qualimap_normal{
input:
sample_id=sample_id+'_N',
bam_file=SentieonFastqToBam_normal.deduped_bam,
bam_bai=SentieonFastqToBam_normal.deduped_bam_bai,
annot_gff=annot_gff,
docker=docker_qualimap,
cluster_config=cluster_config,
disk_size=disk_size
}


}

if (tumor_in1 != ""){

call fastqTobam.SentieonFastqToBam as SentieonFastqToBam_tumor{
input:
fastq1=tumor_in1,
fastq2=tumor_in2,
sample_id=sample_id+'_T',
Seq_platform=Seq_platform,
ref_fasta=ref_fasta,
ref_fasta_dir=ref_fasta_dir,
SENTIEON_LICENSE=SENTIEON_LICENSE,
docker=docker_sentieon,
cluster_config=cluster_config,
disk_size=disk_size

}

call qualimap.qualimap as qualimap_tumor{
input:
sample_id=sample_id+'_T',
bam_file=SentieonFastqToBam_tumor.deduped_bam,
bam_bai=SentieonFastqToBam_tumor.deduped_bam_bai,
annot_gff=annot_gff,
docker=docker_qualimap,
cluster_config=cluster_config,
disk_size=disk_size
}



}


}

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