@@ -5,6 +5,9 @@ | |||
> E-mail:yaqing.liu@outlook.com | |||
> | |||
CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent. | |||
Official document: https://cnvkit.readthedocs.io/en/stable/index.html | |||
## Install | |||
``` | |||
@@ -43,5 +46,5 @@ choppy install YaqingLiu/CNVkit | |||
"sample_id": "..." | |||
} | |||
``` | |||
#### Output | |||
## Output | |||
A segment file and some intermediate *.cnn/cns will be generated, and the segment file can be imported into IGV. |
@@ -1,6 +1,6 @@ | |||
{ | |||
"fasta": "GRCh38.d1.vd1.fa", | |||
"ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"fasta": "oss://pgx-reference-data/GRCh38.d1.vd1/GRCh38.d1.vd1.fa", | |||
"fai": "oss://pgx-reference-data/GRCh38.d1.vd1/GRCh38.d1.vd1.fa.fai", | |||
"docker": "registry.cn-hangzhou.aliyuncs.com/pgx-docker-registry/cnvkit:0.9.7", | |||
"disk_size": "200", | |||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", |
@@ -5,7 +5,7 @@ | |||
"{{ project_name }}.tumor_bam": {{ tumor_bam | tojson }}, | |||
"{{ project_name }}.tumor_bai": {{ tumor_bai | tojson }}, | |||
"{{ project_name }}.fasta": "{{ fasta }}", | |||
"{{ project_name }}.ref_dir": "{{ ref_dir }}", | |||
"{{ project_name }}.fai": "{{ fai }}", | |||
"{{ project_name }}.docker": "{{ docker }}", | |||
"{{ project_name }}.bed": "{{ bed }}", | |||
"{{ project_name }}.disk_size": "{{ disk_size }}", |
@@ -1,12 +1,12 @@ | |||
task access { | |||
File ref_dir | |||
String fasta | |||
File fasta | |||
File fai | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
cnvkit.py access -s 5000 -o access-5kb-mappable.hg38.bed ${ref_dir}/${fasta} | |||
cnvkit.py access -s 5000 -o access-5kb-mappable.hg38.bed ${fasta} | |||
>>> | |||
runtime { |
@@ -5,8 +5,8 @@ task batch { | |||
Array[File] normal_bam | |||
Array[File] normal_bai | |||
File bed | |||
File ref_dir | |||
String fasta | |||
File fasta | |||
File fai | |||
File access_bed | |||
String docker | |||
String cluster_config | |||
@@ -22,7 +22,7 @@ task batch { | |||
cnvkit.py batch ${sep=' ' tumor_bam} --normal ${sep=' ' normal_bam} \ | |||
--targets ${bed} \ | |||
--fasta ${ref_dir}/${fasta} --access ${access_bed} \ | |||
--fasta ${fasta} --access ${access_bed} \ | |||
--output-reference my_reference.cnn --output-dir ./results/ \ | |||
--diagram --scatter | |||
>>> |
@@ -9,8 +9,8 @@ workflow {{ project_name }} { | |||
Array[File] normal_bam | |||
Array[File] normal_bai | |||
File bed | |||
File ref_dir | |||
String fasta | |||
File fasta | |||
File fai | |||
String docker | |||
String cluster_config | |||
String disk_size |