## ----setup, include=FALSE----------------------------------------------------- knitr::opts_chunk$set( comment = "", warning = FALSE, message = FALSE, cache = FALSE ) ## ----installation, eval=FALSE, include=FALSE---------------------------------- # if (!requireNamespace("BiocManager", quietly = TRUE)) { # install.packages("BiocManager") # } # BiocManager::install("UPDhmm") # BiocManager::install("regioneR") # BiocManager::install("karyoploteR") ## ----loading libraries, message = FALSE--------------------------------------- library(UPDhmm) library(dplyr) ## ----read Vcf,echo=TRUE------------------------------------------------------- library(UPDhmm) library(VariantAnnotation) file <- system.file(package = "UPDhmm", "extdata", "test_het_mat.vcf.gz") vcf <- readVcf(file) processedVcf <- vcfCheck( vcf, proband = "NA19675", mother = "NA19678", father = "NA19679" ) ## ----calculateEvents function, echo=TRUE-------------------------------------- updEvents <- calculateEvents(largeCollapsedVcf = processedVcf) head(updEvents) ## ----echo=TRUE---------------------------------------------------------------- library(karyoploteR) library(regioneR) plotUPDKp <- function(updEvents) { updEvents$seqnames <- paste0("chr", updEvents$seqnames) het_fat <- toGRanges(subset( updEvents, group == "het_fat" )[, c("seqnames", "start", "end")]) het_mat <- toGRanges(subset( updEvents, group == "het_mat" )[, c("seqnames", "start", "end")]) iso_fat <- toGRanges(subset( updEvents, group == "iso_fat" )[, c("seqnames", "start", "end")]) iso_mat <- toGRanges(subset( updEvents, group == "iso_mat" )[, c("seqnames", "start", "end")]) kp <- plotKaryotype(genome = "hg19") kpPlotRegions(kp, het_fat, col = "#AAF593") kpPlotRegions(kp, het_mat, col = "#FFB6C1") kpPlotRegions(kp, iso_fat, col = "#A6E5FC") kpPlotRegions(kp, iso_mat, col = "#E9B864") colors <- c("#AAF593", "#FFB6C1", "#A6E5FC", "#E9B864") legend("topright", legend = c("Het_Fat", "Het_Mat", "Iso_Fat", "Iso_Mat"), fill = colors ) } plotUPDKp(updEvents) ## ----------------------------------------------------------------------------- sessionInfo()