## ----include = FALSE---------------------------------------------------------- knitr::opts_chunk$set( collapse = TRUE, comment = "#>", fig.align = "center" ) ## ----install via BiocManager, eval=FALSE-------------------------------------- # if (!requireNamespace("BiocManager", quietly = TRUE)) # install.packages("BiocManager") # # BiocManager::install("cfdnakit") ## ----install devtools and BiocManager, eval=FALSE----------------------------- # if(! "devtools" %in% rownames(installed.packages())) # install.packages("devtools") # if(! "BiocManager" %in% rownames(installed.packages())) # install.packages("BiocManager") ## ----install cfdnakit via github, eval=FALSE---------------------------------- # library(devtools) ### use devtools # install_github("Pitithat-pu/cfdnakit") ### install cfDNAKit ## ----load the package cfdnakit, eval=FALSE------------------------------------ # library(cfdnakit) ### Load cfdnakit package ## ----read a bam file and splited into 1000 KB non-overlapping bins, warning=FALSE---- library(cfdnakit) sample_bamfile <- system.file("extdata", "ex.plasma.bam", package = "cfdnakit") plasma_SampleBam <- read_bamfile(sample_bamfile, apply_blacklist = FALSE) ## ----save the file, eval=FALSE------------------------------------------------ # ### Optional # saveRDS(plasma_SampleBam, file = "patientcfDNA_SampleBam.RDS") ## ----plot fragment length distribution, eval=FALSE---------------------------- # plot_fragment_dist(list("Plasma.Sample"=plasma_SampleBam)) ## ----load example patient cfDNA sample BAM, warning=FALSE--------------------- example_RDS <- "example_patientcfDNA_SampleBam.RDS" example_RDS_file <- system.file("extdata",example_RDS, package = "cfdnakit") sample_bins <- readRDS(example_RDS_file) ## ----getting build-in healthy plasma cfDNA sample, warning=FALSE-------------- control_rds<-"BH01_CHR15.SampleBam.rds" control_RDS_file <- system.file("extdata",control_rds, package = "cfdnakit") control_bins <- readRDS(control_RDS_file) ## ----plot fragment length distribution comparing to a healthy cfDNA, fig.width=5.5, fig.height=4---- comparing_list <- list("Healthy.cfDNA"=control_bins, "Patient.1"=sample_bins) plot_fragment_dist(comparing_list) ## ----getting fragment length profile,warning=FALSE, fig.width=12, fig.height=5---- sample_profile <- get_fragment_profile(sample_bins, sample_id = "Patient.1") ## ----show sample profile------------------------------------------------------ sample_profile$sample_profile ## ----plot genome-wide short-fragment ratio, fig.width=12, fig.height=5, warning=FALSE---- ## For this demenstration, we load a real patient-derived cfDNA profile. patient.SampleFragment.file <- system.file("extdata", "example_patientcfDNA_SampleFragment.RDS", package = "cfdnakit") patient.SampleFragment <- readRDS(patient.SampleFragment.file) plot_sl_ratio(patient.SampleFragment) ## ----save SampleFragment Profile file,eval=FALSE------------------------------ # destination_dir <- "~/cfdnakit.result" # saveRDS(sample_profile, # file = paste0(destination_dir, # "/plasma.SampleFragment.RDS")) ## ----create PoN profile, eval=FALSE------------------------------------------- # PoN.profiles <- create_PoN("Path.to/Pon-list.txt") # # saveRDS(PoN.profiles, "PoN.rds") ## ----Make a pon profile------------------------------------------------------- PoN_rdsfile <- system.file("extdata", "ex.PoN.rds", package = "cfdnakit") PoN.profiles <- readRDS(PoN_rdsfile) ## ----Reading PoN samples,warning=FALSE,fig.width=8, fig.height=4-------------- sample_zscore <- get_zscore_profile(patient.SampleFragment, PoN.profiles) ## ----Reading PoN samples and plot scaled value,warning=FALSE,fig.width=8, fig.height=4---- sample_zscore_segment <- segmentByPSCB(sample_zscore) plot_transformed_sl(sample_zscore,sample_zscore_segment) ## ----cnv calling and plot distance matrix,warning=FALSE,fig.width=6, fig.height=4---- sample_cnv <- call_cnv(sample_zscore_segment,sample_zscore) plot_distance_matrix(sample_cnv) ## ----get and print solution table--------------------------------------------- solution_table <- get_solution_table(sample_cnv) solution_table ## ----plot cnv-calling first solution,warning=FALSE,fig.width=12, fig.height=5---- plot_cnv_solution(sample_cnv,selected_solution = 1) ## ----calculate CES score------------------------------------------------------ calculate_CES_score(sample_zscore_segment) ## ----session info------------------------------------------------------------- sessionInfo()