## ----------------------------------------------------------------------------- library(EthSEQ) ## Run the analysis ethseq.Analysis( target.vcf = system.file("extdata", "Samples.HGDP.10000SNPs.vcf",package="EthSEQ"), model.gds = system.file("extdata", "Reference.Gencode.Exome.10000SNPs.gds",package="EthSEQ"), out.dir = file.path(tempdir(),"EthSEQ_Analysis/"), verbose=TRUE, cores =1, composite.model.call.rate = 1, space = "3D") ## Load and display computed ethnicity annotations ethseq.annotations = read.delim(file.path(tempdir(),"EthSEQ_Analysis/Report.txt"), sep="\t",as.is=TRUE,header=TRUE) head(ethseq.annotations) ## Delete analysis folder unlink(file.path(tempdir(),"EthSEQ_Analysis/"),recursive=TRUE) ## ----eval=FALSE--------------------------------------------------------------- # library(EthSEQ) # # ## View all available reference models # getModelsList() # # ## Run the analysis # ethseq.Analysis( # target.vcf = system.file("extdata", "Samples.HGDP.10000SNPs.vcf",package="EthSEQ"), # model.available = "Gencode.Exome", # model.assembly = "hg38", # model.pop = "All", # out.dir = file.path(tempdir(),"EthSEQ_Analysis/"), # verbose=TRUE, # cores =1, # composite.model.call.rate = 1, # space = "3D") # # ## Delete analysis folder # unlink(file.path(tempdir(),"EthSEQ_Analysis/"),recursive=TRUE) ## ----eval=FALSE--------------------------------------------------------------- # library(EthSEQ) # # ## Download BAM file used in the analysis # download.file("https://github.com/cibiobcg/EthSEQ_Data/raw/master/BAM/HGDP00228.sub_GRCh38.bam", # destfile = file.path(tempdir(),"HGDP00228.sub_GRCh38.bam")) # download.file("https://github.com/cibiobcg/EthSEQ_Data/raw/master/BAM/HGDP00228.sub_GRCh38.bam.bai", # destfile = file.path(tempdir(),"HGDP00228.sub_GRCh38.bam.bai")) # download.file("https://github.com/cibiobcg/EthSEQ_Data/raw/master/BAM/HGDP01200.sub_GRCh38.bam", # destfile = file.path(tempdir(),"HGDP01200.sub_GRCh38.bam")) # download.file("https://github.com/cibiobcg/EthSEQ_Data/raw/master/BAM/HGDP01200.sub_GRCh38.bam.bai", # destfile = file.path(tempdir(),"HGDP01200.sub_GRCh38.bam.bai")) # download.file("https://github.com/cibiobcg/EthSEQ_Data/raw/master/BAM/HGDP01201.sub_GRCh38.bam", # destfile = file.path(tempdir(),"HGDP01201.sub_GRCh38.bam")) # download.file("https://github.com/cibiobcg/EthSEQ_Data/raw/master/BAM/HGDP01201.sub_GRCh38.bam.bai", # destfile = file.path(tempdir(),"HGDP01201.sub_GRCh38.bam.bai")) # # ## Create BAM files list # write(c(file.path(tempdir(),"HGDP00228.sub_GRCh38.bam"), # file.path(tempdir(),"HGDP01200.sub_GRCh38.bam"), # file.path(tempdir(),"HGDP01201.sub_GRCh38.bam")), # file.path(tempdir(),"BAMs_List.txt")) # # ## Run the analysis # ethseq.Analysis( # bam.list = file.path(tempdir(),"BAMs_List.txt"), # model.available = "Gencode.Exome", # out.dir = file.path(tempdir(),"EthSEQ_Analysis/"), # verbose = TRUE, # cores = 1, # aseq.path = file.path(tempdir(),"EthSEQ_Analysis/"), # run.genotype = TRUE, # mbq = 20, # mrq = 20, # mdc = 10, # composite.model.call.rate = 1, # space = "3D", # bam.chr.encoding = TRUE) # chromosome names encoded without "chr" prefix in BAM files # # ## Delete analysis folder # unlink(file.path(tempdir(),"EthSEQ_Analysis/"),recursive=TRUE) ## ----eval=FALSE--------------------------------------------------------------- # library(EthSEQ) # # ## Create multi-step refinement matrix # m = matrix("",ncol=2,nrow=2) # m[1,1] = "EUR|AFR|AMR" # m[2,2] = "EUR|AMR" # # ## Run the analysis on a toy example with only 10000 SNPs # ethseq.Analysis( # target.vcf = system.file("extdata","Samples.HGDP.10000SNPs.vcf",package="EthSEQ"), # out.dir = file.path(tempdir(),"EthSEQ_Analysis/"), # model.available = "Gencode.Exome", # verbose = TRUE, # refinement.analysis = m, # composite.model.call.rate = 1, # space = "3D") # # ## Delete analysis folder # unlink(file.path(tempdir(),"EthSEQ_Analysis/"),recursive=TRUE) ## ----eval=FALSE--------------------------------------------------------------- # library(EthSEQ) # # ### Load list of VCF files paths # vcf.files = c(system.file("extdata","RefSample1.vcf", package="EthSEQ"), # system.file("extdata","RefSample2.vcf", package="EthSEQ")) # # ### Load samples annotations # annot.samples = read.delim(system.file("extdata","Annotations_Test_v3.txt",package="EthSEQ")) # # ### Create reference model # ethseq.RM( # vcf.fn = vcf.files, # annotations = annot.samples, # out.dir = file.path(tempdir(),"EthSEQ_Analysis/"), # model.name = "Reference.Model", # bed.fn = NA, # call.rate = 1, # cores = 1) # # ## Delete example file # unlink(file.path(tempdir(),"EthSEQ_Analysis/"),recursive=TRUE)