Description

copy number profiles of tumour cells.

Input

name:type
description
pattern

meta:map

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

]

input_normal:file

BAM/CRAM file, must adhere to chr1, chr2, …chrX notation For modifying chromosome notation in bam files please follow https://josephcckuo.wordpress.com/2016/11/17/modify-chromosome-notation-in-bam-file/.

*.{bam,cram}

index_normal:file

index for normal_bam/cram

*.{bai,crai}

input_tumor:file

BAM/CRAM file, must adhere to chr1, chr2, …chrX notation

*.{bam,cram}

index_tumor:file

index for tumor_bam/cram

*.{bai,crai}

allele_files:file

allele files for ASCAT WGS. Can be downloaded here https://github.com/VanLoo-lab/ascat/tree/master/ReferenceFiles/WGS

loci_files:file

loci files for ASCAT WGS. Loci files without chromosome notation can be downloaded here https://github.com/VanLoo-lab/ascat/tree/master/ReferenceFiles/WGS Make sure the chromosome notation matches the bam/cram input files. To add the chromosome notation to loci files (hg19/hg38) if necessary, you can run this command if [[ $(samtools view <your_bam_file.bam> | head -n1 | cut -f3)\" == \*."chr\"\*.]]; then for i in {1..22} X; do sed -i 's/^/chr/' G1000_loci_hg19_chr_${i}.txt; done; fi

bed_file:file

Bed file for ASCAT WES (optional, but recommended for WES)

fasta:file

Reference fasta file (optional)

gc_file:file

GC correction file (optional) - Used to do logR correction of the tumour sample(s) with genomic GC content

rt_file:file

replication timing correction file (optional, provide only in combination with gc_file)

Output

name:type
description
pattern

allelefreqs

meta:map

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

]

*alleleFrequencies_chr*.txt:file

Files containing allee frequencies per chromosome

*{alleleFrequencies_chr*.txt}

bafs

meta:map

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

]

*BAF.txt:file

BAF file

cnvs

meta:map

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

]

*cnvs.txt:file

CNV file

logrs

meta:map

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

]

*LogR.txt:file

LogR file

metrics

meta:map

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

]

*metrics.txt:file

File containing quality metrics

*.{metrics.txt}

png

meta:map

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

]

*png:file

ASCAT plots

*.{png}

purityploidy

meta:map

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

]

*purityploidy.txt:file

File with purity and ploidy data

*.{purityploidy.txt}

segments

meta:map

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

]

*segments.txt:file

File with segments data

*.{segments.txt}

versions

versions.yml:file

File containing software versions

versions.yml

Tools

ascat
GPL v3

ASCAT is a method to derive copy number profiles of tumour cells, accounting for normal cell admixture and tumour aneuploidy. ASCAT infers tumour purity (the fraction of tumour cells) and ploidy (the amount of DNA per tumour cell), expressed as multiples of haploid genomes from SNP array or massively parallel sequencing data, and calculates whole-genome allele-specific copy number profiles (the number of copies of both parental alleles for all SNP loci across the genome).