## ----setup, include = FALSE--------------------------------------------------- knitr::opts_chunk$set( collapse = TRUE, comment = "#>", fig.width = 8, fig.height = 3.5, dpi = 100, out.width = "100%" ) can_load <- function(pkg) { nzchar(system.file(package = pkg)) && isTRUE(tryCatch({ loadNamespace(pkg); TRUE }, error = function(e) FALSE)) } have_bsgenome <- can_load("BSgenome.Hsapiens.1000genomes.hs37d5") have_msigplot <- can_load("mSigPlot") eval_all <- have_bsgenome && have_msigplot knitr::opts_chunk$set(eval = eval_all) ## ----load--------------------------------------------------------------------- library(mSigSpectra) library(mSigPlot) ## ----files-------------------------------------------------------------------- sbs_file <- system.file( "extdata", "Strelka-SBS-GRCh37", "Strelka.SBS.GRCh37.s1.vcf", package = "mSigSpectra" ) id_file <- system.file( "extdata", "Strelka-ID-GRCh37", "Strelka.ID.GRCh37.s1.vcf", package = "mSigSpectra" ) mutect_file <- system.file( "extdata", "Mutect-GRCh37", "Mutect.GRCh37.s1.vcf", package = "mSigSpectra" ) ## ----read-sbs----------------------------------------------------------------- sbs_vcf <- read_vcf(sbs_file, filter = "PASS") nrow(sbs_vcf) head(sbs_vcf[, c("CHROM", "POS", "REF", "ALT", "FILTER")]) ## ----split-sbs---------------------------------------------------------------- sbs_split <- split_vcf(sbs_vcf, name_of_vcf = "Strelka.SBS.GRCh37.s1") sapply(sbs_split[c("SBS", "DBS", "ID")], nrow) ## ----annotate-sbs------------------------------------------------------------- sbs_ann <- annotate_sbs_or_dbs_vcf(sbs_split$SBS, ref_genome = "GRCh37")$annotated.vcf new_cols <- setdiff(colnames(sbs_ann), colnames(sbs_split$SBS)) new_cols ## ----build-sbs---------------------------------------------------------------- cat96 <- vcf_to_sbs_catalog(sbs_ann, type = "SBS96", ref_genome = "GRCh37", region = "genome", sample_name = "s1") cat192 <- vcf_to_sbs_catalog(sbs_ann, type = "SBS192", ref_genome = "GRCh37", region = "transcript", sample_name = "s1") cat1536 <- vcf_to_sbs_catalog(sbs_ann, type = "SBS1536", ref_genome = "GRCh37", region = "genome", sample_name = "s1") dim(cat96) sum(cat96) catalog_attrs(cat96) ## ----plot-sbs96, fig.height=3.5----------------------------------------------- plot_SBS96(cat96, plot_title = "Strelka.SBS.GRCh37.s1 — SBS96") ## ----plot-sbs192, fig.height=4------------------------------------------------ plot_SBS192(cat192, plot_title = "Strelka.SBS.GRCh37.s1 — SBS192 (stranded)") ## ----plot-sbs1536, fig.height=8----------------------------------------------- plot_SBS1536(cat1536, plot_title = "Strelka.SBS.GRCh37.s1 — SBS1536") ## ----id-pipeline-------------------------------------------------------------- id_vcf <- read_vcf(id_file, filter = "PASS") id_split <- split_vcf(id_vcf, name_of_vcf = "Strelka.ID.GRCh37.s1") id_ann <- annotate_id_vcf(id_split$ID, ref_genome = "GRCh37")$annotated.vcf id_ann[1, c("CHROM", "POS", "REF", "ALT", "COSMIC_83", "Koh_89")] cat_id83 <- vcf_to_id_catalog(id_ann, type = "ID83", ref_genome = "GRCh37", region = "genome", sample_name = "s1") cat_id89 <- vcf_to_id_catalog(id_ann, type = "ID89", ref_genome = "GRCh37", region = "genome", sample_name = "s1") cat_id476 <- vcf_to_id_catalog(id_ann, type = "ID476", ref_genome = "GRCh37", region = "genome", sample_name = "s1") ## ----plot-id83, fig.height=3.5------------------------------------------------ plot_ID83(cat_id83, plot_title = "Strelka.ID.GRCh37.s1 — ID83") ## ----plot-id89, fig.height=4-------------------------------------------------- plot_ID89(cat_id89, plot_title = "Strelka.ID.GRCh37.s1 — ID89") ## ----plot-id476, fig.height=10------------------------------------------------ plot_ID476(cat_id476, plot_title = "Strelka.ID.GRCh37.s1 — ID476") ## ----density------------------------------------------------------------------ cat96_density <- transform_catalog(cat96, target_counts_or_density = "density") attr(cat96_density, "counts_or_density") ## ----plot-sbs96-density, fig.height=3.5--------------------------------------- plot_SBS96(cat96_density, plot_title = "Strelka.SBS.GRCh37.s1 — SBS96 (density)") ## ----collapse----------------------------------------------------------------- cat96_from_1536 <- collapse_catalog(cat1536, to = "SBS96") all.equal(as.numeric(cat96_from_1536[, 1]), as.numeric(cat96[, 1])) ## ----io----------------------------------------------------------------------- out_path <- file.path(tempdir(), "Strelka.SBS.GRCh37.s1.SBS96.csv") write_catalog(cat96, out_path) cat96_back <- read_catalog(out_path, region = "genome") identical(as.numeric(cat96), as.numeric(cat96_back))