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:false ]

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:false ]

*.bed

:file

File containing genomic regions

*.{bed}

cnn

meta

:map

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

*.cnn

:file

File containing coverage information

*.{cnn}

cnr

meta

:map

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

*.cnr

:file

File containing copy number ratio information

*.{cnr}

cns

meta

:map

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

*.cns

:file

File containing copy number segment information

*.{cns}

pdf

meta

:map

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

*.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:false ]

*.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.