name: ascat description: copy number profiles of tumour cells. keywords: - bam - copy number - cram tools: - ascat: description: 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). homepage: None documentation: https://github.com/VanLoo-lab/ascat/tree/master/man tool_dev_url: https://github.com/VanLoo-lab/ascat doi: "10.1093/bioinformatics/btaa538" licence: ["GPL v3"] input: - args: type: map description: | Groovy Map containing tool parameters. MUST follow the structure/keywords below and be provided via modules.config. Parameters must be set between quotes. (optional) parameters can be removed from the map, if they are not set. For default values, please check the documentation above. ``` { [ "gender": "XX", "genomeVersion": "hg19" "purity": (optional), "ploidy": (optional), "gc_files": (optional), "minCounts": (optional), "BED_file": (optional) but recommended for WES, "chrom_names": (optional), "min_base_qual": (optional), "min_map_qual": (optional), "ref_fasta": (optional), "skip_allele_counting_tumour": (optional), "skip_allele_counting_normal": (optional) ] } ``` - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test', single_end:false ] - input_normal: type: file description: 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/. pattern: "*.{bam,cram}" - index_normal: type: file description: index for normal_bam/cram pattern: "*.{bai,crai}" - input_tumor: type: file description: BAM/CRAM file, must adhere to chr1, chr2, ...chrX notation pattern: "*.{bam,cram}" - index_tumor: type: file description: index for tumor_bam/cram pattern: "*.{bai,crai}" - allele_files: type: file description: allele files for ASCAT WGS. Can be downloaded here https://github.com/VanLoo-lab/ascat/tree/master/ReferenceFiles/WGS - loci_files: type: file description: 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 [[ $(samtools view | head -n1 | cut -f3)\" == *\"chr\"* ]]; then for i in {1..22} X; do sed -i 's/^/chr/' G1000_loci_hg19_chr_${i}.txt; done; fi` - bed_file: type: file description: Bed file for ASCAT WES (optional, but recommended for WES) - fasta: type: file description: Reference fasta file (optional) - gc_file: type: file description: GC correction file (optional) - Used to do logR correction of the tumour sample(s) with genomic GC content - rt_file: type: file description: replication timing correction file (optional, provide only in combination with gc_file) output: - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test', single_end:false ] - allelefreqs: type: file description: Files containing allee frequencies per chromosome pattern: "*{alleleFrequencies_chr*.txt}" - metrics: type: file description: File containing quality metrics pattern: "*.{metrics.txt}" - png: type: file description: ASCAT plots pattern: "*.{png}" - purityploidy: type: file description: File with purity and ploidy data pattern: "*.{purityploidy.txt}" - segments: type: file description: File with segments data pattern: "*.{segments.txt}" - versions: type: file description: File containing software versions pattern: "versions.yml" authors: - "@aasNGC" - "@lassefolkersen" - "@FriederikeHanssen" - "@maxulysse" - "@SusiJo"