name: ichorcna_run description: ichorCNA is an R package for calculating copy number alteration from (low-pass) whole genome sequencing, particularly for use in cell-free DNA keywords: - ichorcna - cnv - cna - cfDNA - wgs tools: - ichorcna: description: Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing. homepage: https://github.com/broadinstitute/ichorCNA documentation: https://github.com/broadinstitute/ichorCNA/wiki tool_dev_url: https://github.com/broadinstitute/ichorCNA doi: "10.1038/s41467-017-00965-y" licence: ["GPL v3"] input: - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test'] - wig: type: file description: hmmcopy/readCounter processed .wig file giving the number of reads in the sample, in each genomic window pattern: "*.{wig}" - gc_wig: type: file description: hmmcopy/gcCounter processed .wig file giving the gc content in the reference fasta, in each genomic window pattern: "*.{wig}" - map_wig: type: file description: hmmcopy/mapCounter processed .wig file giving the mapability in the reference fasta, in each genomic window pattern: "*.{wig}" - panel_of_normals: type: file description: Panel of normals data, generated by calling ichorCNA on a set of normal samples with the same window size etc. pattern: "*.{rds}" - centromere: type: file description: Text file giving centromere locations of each genome, to exclude these windows pattern: "*.{txt}" output: - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test'] - versions: type: file description: File containing software versions pattern: "versions.yml" - cna_seg: type: file description: Predicted copy number variation per segment pattern: "*.{cng.seg}" - ichorcna_params: type: file description: A text file showing the values that ichorCNA has estimated for tumour fraction, ploidy etc pattern: "*.{params.txt}" - genome_plot: type: file description: A plot with the best-fit genome-wide CNV data pattern: "*.{genomeWide.pdf}" authors: - "@sppearce"