# README.md | |||||
> Author: Yaqing Liu | |||||
> | |||||
> Email: [yaqing.liu@outlook.com](mailto:yaqing.liu@outlook.com) | |||||
> | |||||
> Last Updates: 25/04/2021 | |||||
#### Requirements | |||||
- choppy | |||||
- Ali-Cloud | |||||
- Linux | |||||
#### Introduction | |||||
Variant calling pipeline from mapping to generating MAF files with three optional callers, i.e. TNseq, TNscope and Varscan2, for WGS and WES data. | |||||
**Please carefully check the reference genome, bed file, etc.** | |||||
#### Usage | |||||
``` | |||||
open-choppy-env | |||||
choppy install YaqingLiu/variant-calling-latest | |||||
choppy samples YaqingLiu/variant-calling-latest --no-default | |||||
# sample_id,fastq_1,fastq_2 | |||||
choppy batch YaqingLiu/variant-calling-latest samples.csv -p Project -l Label | |||||
# Query the status of all tasks in the project | |||||
choppy query -L Label | grep "status" | |||||
``` |
"SENTIEON_LICENSE": "192.168.0.55:8990", | "SENTIEON_LICENSE": "192.168.0.55:8990", | ||||
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | "dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | ||||
"db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | "db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | ||||
"sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2019.11.28", | |||||
"sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2020.10.07", | |||||
"varscan_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/varscan2:v2.4.3", | "varscan_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/varscan2:v2.4.3", | ||||
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | "annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | ||||
"maftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/r-base:4.0.2", | "maftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/r-base:4.0.2", | ||||
"bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | "bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | ||||
"database": "oss://pgx-reference-data/annovar_hg38/", | "database": "oss://pgx-reference-data/annovar_hg38/", | ||||
"regions": "oss://pgx-reference-data/reference/wes_bedfiles/agilent_v6/SureSelect_Human_All_Exon_V6_r2.bed", | |||||
"set_pon": "true", | |||||
"regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Covered.bed", | |||||
"set_pon": false, | |||||
"cosmic_vcf": "CosmicCodingMuts.hg38.v91.vcf", | "cosmic_vcf": "CosmicCodingMuts.hg38.v91.vcf", | ||||
"cosmic_dir": "oss://pgx-reference-data/reference/cosmic/", | "cosmic_dir": "oss://pgx-reference-data/reference/cosmic/", | ||||
"disk_size": "200", | "disk_size": "200", | ||||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", | "cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", | ||||
"germline": "false", | |||||
"tnseq": "true", | |||||
"tnscope": "true", | |||||
"varscan": "true" | |||||
"germline": false, | |||||
"tnseq": true, | |||||
"tnscope": true, | |||||
"varscan": true | |||||
} | } |
"{{ project_name }}.maftools_docker": "{{ maftools_docker }}", | "{{ project_name }}.maftools_docker": "{{ maftools_docker }}", | ||||
"{{ project_name }}.database": "{{ database }}", | "{{ project_name }}.database": "{{ database }}", | ||||
"{{ project_name }}.regions": "{{ regions }}", | "{{ project_name }}.regions": "{{ regions }}", | ||||
"{{ project_name }}.set_pon": {{ set_pon }}, | |||||
"{{ project_name }}.set_pon": {{ set_pon | tojson }}, | |||||
"{{ project_name }}.pon_vcf": "{{ pon_vcf }}", | "{{ project_name }}.pon_vcf": "{{ pon_vcf }}", | ||||
"{{ project_name }}.cosmic_vcf": "{{ cosmic_vcf }}", | "{{ project_name }}.cosmic_vcf": "{{ cosmic_vcf }}", | ||||
"{{ project_name }}.cosmic_dir": "{{ cosmic_dir }}", | "{{ project_name }}.cosmic_dir": "{{ cosmic_dir }}", | ||||
"{{ project_name }}.disk_size": "{{ disk_size }}", | "{{ project_name }}.disk_size": "{{ disk_size }}", | ||||
"{{ project_name }}.cluster_config": "{{ cluster_config }}", | "{{ project_name }}.cluster_config": "{{ cluster_config }}", | ||||
"{{ project_name }}.germline": {{ germline }}, | |||||
"{{ project_name }}.tnseq": {{ tnseq }}, | |||||
"{{ project_name }}.tnscope": {{ tnscope }}, | |||||
"{{ project_name }}.varscan": {{ varscan }} | |||||
"{{ project_name }}.germline": {{ germline | tojson }}, | |||||
"{{ project_name }}.tnseq": {{ tnseq | tojson }}, | |||||
"{{ project_name }}.tnscope": {{ tnscope | tojson }}, | |||||
"{{ project_name }}.varscan": {{ varscan | tojson }} | |||||
} | } |
String pon_command = if set_pon then "--pon /cromwell_root/tmp/PON/$(basename ${pon_vcf}) --cosmic /cromwell_root/tmp/PON/${cosmic_vcf}" else "" | String pon_command = if set_pon then "--pon /cromwell_root/tmp/PON/$(basename ${pon_vcf}) --cosmic /cromwell_root/tmp/PON/${cosmic_vcf}" else "" | ||||
command <<< | command <<< | ||||
set -o pipefail | set -o pipefail | ||||
set -e | set -e |
disk_size=disk_size, | disk_size=disk_size, | ||||
cluster_config=cluster_config | cluster_config=cluster_config | ||||
} | } | ||||
call annovar.annovar as TNscope_annovar { | call annovar.annovar as TNscope_annovar { | ||||
input: | input: | ||||
sample=sample_id, | sample=sample_id, |