## ----eval=FALSE--------------------------------------------------------------- # # Install via BioConductor # if (!require("BiocManager", quietly = TRUE)) # install.packages("BiocManager") # # BiocManager::install("katdetectr") ## ----------------------------------------------------------------------------- library(katdetectr) ## ---- label = 'Importing genomic variants', eval = TRUE----------------------- # Genomic variants stored within the VCF format. pathToVCF <- system.file(package = "katdetectr", "extdata/CPTAC_Breast.vcf") # Genomic variants stored within the MAF format. pathToMAF <- system.file(package = "katdetectr", "extdata/APL_primary.maf") # In addition, we can generate synthetic genomic variants including kataegis foci. # using generateSyntheticData(). This will output a VRanges object. syntheticData <- generateSyntheticData(nBackgroundVariants = 2500, nKataegisFoci = 1) ## ---- label = 'Detection of kataegis foci', eval = TRUE----------------------- # Detect kataegis foci within the given VCF file. kdVCF <- detectKataegis(genomicVariants = pathToVCF) # # Detect kataegis foci within the given MAF file. # As this file contains multiple samples, we set aggregateRecords = TRUE. kdMAF <- detectKataegis(genomicVariants = pathToMAF, aggregateRecords = TRUE) # Detect kataegis foci within the synthetic data. kdSynthetic <- detectKataegis(genomicVariants = syntheticData) ## ---- label = 'Overview of KatDetect objects', eval = TRUE-------------------- summary(kdVCF) print(kdVCF) show(kdVCF) # Or simply: kdVCF ## ---- label = 'Retrieving information from KatDetect objects', eval = TRUE---- getGenomicVariants(kdVCF) getSegments(kdVCF) getKataegisFoci(kdVCF) getInfo(kdVCF) ## ---- label = 'Visualisation of KatDetect objects', eval = TRUE--------------- rainfallPlot(kdVCF) # With showSegmentation, the detected segments (changepoints) as visualized with their mean IMD. rainfallPlot(kdMAF, showSegmentation = TRUE) # With showSequence, we can display specific chromosomes or all chromosomes in which a putative kataegis foci has been detected. rainfallPlot(kdSynthetic, showKataegis = TRUE, showSegmentation = TRUE, showSequence = "Kataegis") ## ----------------------------------------------------------------------------- # detect putative DBS kdSyntheticDBS <- detectKataegis(genomicVariants = syntheticData, minSizeKataegis = 2, maxMeanIMD = 0) # detect putative MBS, size = 3 kdSyntheticMBS <- detectKataegis(genomicVariants = syntheticData, minSizeKataegis = 3, maxMeanIMD = 0) # detect putative Omikli, size 3 and mean IMD = 500 kdSyntheticMBS <- detectKataegis(genomicVariants = syntheticData, minSizeKataegis = 3, maxMeanIMD = 500) ## ---- label = 'Session Information', eval = TRUE------------------------------ utils::sessionInfo()