Description

Copy number and genotype annotation from whole genome and whole exome sequencing data

Input

name:type
description
pattern

meta:map

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

]

mpileup_normal:file

miniPileup file

mpileup_tumor:file

miniPileup file

cpn_normal:file

Raw copy number profiles (optional)

*.cpn

cpn_tumor:file

Raw copy number profiles (optional)

*.cpn

minipileup_normal:file

miniPileup file from previous run (optional)

*.pileup

minipileup_tumor:file

miniPileup file from previous run (optional)

*.pileup

fasta:file

Reference file (optional; required if args ‘makePileup’ is set)

*.{fasta,fna,fa}

fai:file

Fasta index

*.fai

snp_position:file

Path to a BED or VCF file with SNP positions to create a mini pileup file from the initial BAM file provided in mateFile (optional)

*.{bed,vcf}

known_snps:file

File with known SNPs

*.{vcf,vcf.gz}

known_snps_tbi:file

Index of known_snps

*.tbi

chr_directory:file

Path to directory with chromosome fasta files (optional, required if gccontentprofile is not provided)

*/

mappability:file

Contains information of mappable positions (optional)

*.gem

target_bed:file

Sorted bed file containing capture regions (optional)

*.bed

gccontent_profile:file

File with GC-content profile

Output

name:type
description
pattern

bedgraph

meta:map

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

]

*_ratio.BedGraph:file

Bedgraph format for the UCSC genome browser

.bedgraph

control_cpn

meta:map

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

]

*_control.cpn:file

files with raw copy number profiles

*_control.cpn

sample_cpn

meta:map

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

]

*_sample.cpn:file

files with raw copy number profiles

*_sample.cpn

gcprofile_cpn

meta:map

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

]

GC_profile.*.cpn:file

file with GC-content profile.

GC_profile.*.cpn

BAF

meta:map

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

]

*_BAF.txt:file

file B-allele frequencies for each possibly heterozygous SNP position

*_BAF.txt

CNV

meta:map

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

]

*_CNVs:file

file with coordinates of predicted copy number alterations.

*_CNVs

info

meta:map

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

]

*_info.txt:file

parsable file with information about FREEC run

*_info.txt

ratio

meta:map

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

]

*_ratio.txt:file

file with ratios and predicted copy number alterations for each window

*_ratio.txt

config

meta:map

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

]

config.txt:file

Config file used to run Control-FREEC

config.txt

versions

versions.yml:file

File containing software versions

versions.yml

Tools

controlfreec/freec
GPL >=2

Copy number and genotype annotation from whole genome and whole exome sequencing data.