## ----setup, include=FALSE----------------------------------------------------- knitr::opts_chunk$set(echo = TRUE, warning=FALSE, message=FALSE, width=500) options(max.print=35) run_genome_chunks <- requireNamespace("BSgenome.Hsapiens.UCSC.hg19", quietly = TRUE) ## ----pressure, echo=FALSE, fig.cap="The ActiveDriverWGS Model", out.width = '75%'---- knitr::include_graphics("ADWGS_diagram.png") ## ----input-------------------------------------------------------------------- library(ActiveDriverWGS) data("cll_mutations") head(cll_mutations) data("cancer_genes") head(cancer_genes) data("cancer_gene_sites") head(cancer_gene_sites) ## ----prepare_elements_from_BED12 and prepare_elements_from_BED4--------------- elements = prepare_elements_from_BED12( system.file( "extdata", "chr17.coding_regions.bed", package = "ActiveDriverWGS", mustWork = TRUE)) head(elements) sites = prepare_elements_from_BED4( system.file( "extdata", "chr17.PTM_sites.bed", package = "ActiveDriverWGS", mustWork = TRUE)) head(sites) ## ----ActiveDriverWGS, eval = run_genome_chunks-------------------------------- some_genes = c("ATM", "MYD88", "NOTCH1") results = ActiveDriverWGS(mutations = cll_mutations, elements = cancer_genes[cancer_genes$id %in% some_genes,], sites = cancer_gene_sites) ## ----results, eval = run_genome_chunks---------------------------------------- results ## ----pipeline, eval = run_genome_chunks--------------------------------------- library(GenomicRanges) # Loading elements & creating a GRanges object data(cancer_genes) gr_element_coords = GRanges(seqnames = cancer_genes$chr, IRanges(start = cancer_genes$start, end = cancer_genes$end), mcols = cancer_genes$id) # Loading sites & creating a GRanges object data(cancer_gene_sites) gr_site_coords = GRanges(seqnames = cancer_gene_sites$chr, IRanges(start = cancer_gene_sites$start, end = cancer_gene_sites$end), mocols = cancer_gene_sites$id) # Loading mutations, format muts & creating a GRanges object data(cll_mutations) # load the default reference genome this_genome = BSgenome.Hsapiens.UCSC.hg19::Hsapiens # format_muts cll_mutations = format_muts(cll_mutations, this_genome, filter_hyper_MB = 30) gr_maf = GRanges(cll_mutations$chr, IRanges(start = cll_mutations$pos1, end = cll_mutations$pos2), mcols = cll_mutations[,c("patient", "tag")]) # Examplifying the ATM Element id = "ATM" ## ----result, eval = run_genome_chunks----------------------------------------- # Result of 1 input element result = ADWGS_test(id = id, gr_element_coords = gr_element_coords, gr_site_coords = gr_site_coords, gr_maf = gr_maf, win_size = 50000, this_genome = this_genome) result