Description

Copy number variant detection from high-throughput sequencing data

Input

name:type
description
pattern

meta:map

Groovy Map containing sample information e.g. [ id:‘test’, single_end

]

tumor:file

Input tumour sample bam file (or cram)

normal:file

Input normal sample bam file (or cram)

meta2:map

Groovy Map containing reference information e.g. [ id:‘test’ ]

fasta:file

Input reference genome fasta file (only needed for cram_input and/or when normal_samples are provided)

meta3:map

Groovy Map containing reference information e.g. [ id:‘test’ ]

fasta_fai:file

Input reference genome fasta index (optional, but recommended for cram_input)

meta4:map

Groovy Map containing information about target file e.g. [ id:‘test’ ]

targets:file

Input target bed file

meta5:map

Groovy Map containing information about reference file e.g. [ id:‘test’ ]

reference:file

Input reference cnn-file (only for germline and tumor-only running)

panel_of_normals:file

Input panel of normals file

Output

name:type
description
pattern

bed

meta:map

Groovy Map containing sample information e.g. [ id:‘test’, single_end

]

*.bed:file

File containing genomic regions

*.{bed}

cnn

meta:map

Groovy Map containing sample information e.g. [ id:‘test’, single_end

]

*.cnn:file

File containing coverage information

*.{cnn}

cnr

meta:map

Groovy Map containing sample information e.g. [ id:‘test’, single_end

]

*.cnr:file

File containing copy number ratio information

*.{cnr}

cns

meta:map

Groovy Map containing sample information e.g. [ id:‘test’, single_end

]

*.cns:file

File containing copy number segment information

*.{cns}

pdf

meta:map

Groovy Map containing sample information e.g. [ id:‘test’, single_end

]

*.pdf:file

File with plot of copy numbers or segments on chromosomes

*.{pdf}

png

meta:map

Groovy Map containing sample information e.g. [ id:‘test’, single_end

]

*.png:file

File with plot of bin-level log2 coverages and segmentation calls

*.{png}

versions

versions.yml:file

File containing software versions

versions.yml

Tools

cnvkit
Apache-2.0

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.