@@ -0,0 +1,32 @@ | |||
# 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" | |||
``` |
@@ -7,20 +7,20 @@ | |||
"SENTIEON_LICENSE": "192.168.0.55:8990", | |||
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"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", | |||
"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", | |||
"bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | |||
"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_dir": "oss://pgx-reference-data/reference/cosmic/", | |||
"disk_size": "200", | |||
"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 | |||
} |
@@ -18,14 +18,14 @@ | |||
"{{ project_name }}.maftools_docker": "{{ maftools_docker }}", | |||
"{{ project_name }}.database": "{{ database }}", | |||
"{{ 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 }}.cosmic_vcf": "{{ cosmic_vcf }}", | |||
"{{ project_name }}.cosmic_dir": "{{ cosmic_dir }}", | |||
"{{ project_name }}.disk_size": "{{ disk_size }}", | |||
"{{ 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 }} | |||
} |
@@ -24,7 +24,6 @@ task TNscope { | |||
String pon_command = if set_pon then "--pon /cromwell_root/tmp/PON/$(basename ${pon_vcf}) --cosmic /cromwell_root/tmp/PON/${cosmic_vcf}" else "" | |||
command <<< | |||
set -o pipefail | |||
set -e |
@@ -343,7 +343,7 @@ workflow {{ project_name }} { | |||
disk_size=disk_size, | |||
cluster_config=cluster_config | |||
} | |||
call annovar.annovar as TNscope_annovar { | |||
input: | |||
sample=sample_id, |