# README.md | |||||
### ANNOVAR | |||||
This APP developed for the annotation of VCF files. | |||||
> Author: Yaqing Liu | |||||
> | |||||
> Email: [yaqing.liu@outlook.com](mailto:yaqing.liu@outlook.com) | |||||
> | |||||
> Last Updates: 09/04/2021 | |||||
The version can be set by changing the parameter `hg`. Note that the path to the database is also need to be modified. | |||||
### Getting Started | |||||
#### Requirements | |||||
We recommend using choppy system and Aliyun OSS service. The command will look like this: | |||||
- choppy | |||||
- Ali-Cloud | |||||
- Linux | |||||
``` | |||||
# Activate the choppy environment | |||||
$ open-choppy-env | |||||
Annotated VCF files without index by ANNOVAR hg38 version. | |||||
# Install the APP | |||||
$ choppy install YaqingLiu/annovar [-f] | |||||
# List the parameters | |||||
$ choppy samples YaqingLiu/annovar-latest [--no-default] | |||||
# Submit you task with the `samples.csv file` and `project name` | |||||
$ choppy batch YaqingLiu/annovar-latest samples.csv -p Project [-l project:Label] | |||||
# Query the status of all tasks in the project | |||||
$ choppy query -L project:Label | grep "status" | |||||
``` |
{ | { | ||||
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | |||||
"database": "oss://pgx-reference-data/annovar_hg38/", | |||||
"disk_size": "200", | |||||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc" | |||||
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | |||||
"database": "oss://pgx-reference-data/annovar_hg38/", | |||||
"hg": "hg38", | |||||
"disk_size": "200", | |||||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc" | |||||
} | } |
{ | { | ||||
"{{ project_name }}.vcf": "{{ vcf }}", | "{{ project_name }}.vcf": "{{ vcf }}", | ||||
"{{ project_name }}.annovar_docker": "{{ annovar_docker }}", | "{{ project_name }}.annovar_docker": "{{ annovar_docker }}", | ||||
"{{ project_name }}.hg": "{{ hg }}", | |||||
"{{ project_name }}.database": "{{ database }}", | "{{ project_name }}.database": "{{ database }}", | ||||
"{{ project_name }}.disk_size": "{{ disk_size }}", | "{{ project_name }}.disk_size": "{{ disk_size }}", | ||||
"{{ project_name }}.cluster_config": "{{ cluster_config }}" | "{{ project_name }}.cluster_config": "{{ cluster_config }}" |
task annovar { | task annovar { | ||||
File vcf | |||||
String annotated_vcf = basename(vcf,".vcf") | |||||
File database | |||||
String docker | |||||
String cluster_config | |||||
String disk_size | |||||
File vcf | |||||
String annotated_vcf = basename(vcf,".vcf") | |||||
String hg | |||||
File database | |||||
String docker | |||||
String cluster_config | |||||
String disk_size | |||||
command <<< | |||||
set -o pipefail | |||||
set -e | |||||
nt=$(nproc) | |||||
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver hg38 -out ${annotated_vcf} -remove -protocol refGene,ensGene,knownGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20200316 -operation g,g,g,r,r,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt | |||||
>>> | |||||
runtime { | |||||
docker: docker | |||||
cluster: cluster_config | |||||
systemDisk: "cloud_ssd 40" | |||||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||||
} | |||||
command <<< | |||||
set -o pipefail | |||||
set -e | |||||
nt=$(nproc) | |||||
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver ${hg} -hgvs -out ${annotated_vcf} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20200316 -operation g,r,r,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt | |||||
>>> | |||||
runtime { | |||||
docker: docker | |||||
cluster: cluster_config | |||||
systemDisk: "cloud_ssd 40" | |||||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||||
} | |||||
output { | |||||
File avinput = "${annotated_vcf}.avinput" | |||||
File multianno_txt = "${annotated_vcf}.hg38_multianno.txt" | |||||
File multianno = "${annotated_vcf}.hg38_multianno.vcf" | |||||
} | |||||
output { | |||||
File avinput = "${annotated_vcf}.avinput" | |||||
File multianno_txt = "${annotated_vcf}.multianno.txt" | |||||
File multianno = "${annotated_vcf}.multianno.vcf" | |||||
} | |||||
} | } |
workflow {{ project_name }} { | workflow {{ project_name }} { | ||||
File vcf | File vcf | ||||
String hg | |||||
File database | File database | ||||
String annovar_docker | String annovar_docker | ||||
String disk_size | String disk_size | ||||
call annovar.annovar as annovar { | call annovar.annovar as annovar { | ||||
input: | input: | ||||
vcf=vcf, | vcf=vcf, | ||||
hg=hg, | |||||
database=database, | database=database, | ||||
docker=annovar_docker, | docker=annovar_docker, | ||||
cluster_config=cluster_config, | cluster_config=cluster_config, |