## ---- include = FALSE--------------------------------------------------------- knitr::opts_chunk$set( collapse = TRUE, comment = "#>" ) ## ----setup, echo=FALSE-------------------------------------------------------- library(BinaryDosage) ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ vcf1afile <- system.file("extdata", "set1a.vcf", package = "BinaryDosage") bdfile1a_woinfo <- tempfile() vcftobd(vcffiles = vcf1afile, bdfiles = bdfile1a_woinfo) ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ vcf1afile <- system.file("extdata", "set1a.vcf", package = "BinaryDosage") vcf1ainfo <- system.file("extdata", "set1a.info", package = "BinaryDosage") bdfile1a_winfo <- tempfile() vcftobd(vcffiles = c(vcf1afile, vcf1ainfo), bdfiles = bdfile1a_winfo) ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ bdinfo1a_woinfo <- getbdinfo(bdfiles = bdfile1a_woinfo) bdinfo1a_woinfo$snpinfo bdinfo1a_winfo <- getbdinfo(bdfiles = bdfile1a_winfo) knitr::kable(data.frame(bdinfo1a_winfo$snpinfo), caption = "bdinfo1a_winfo$snpinfo") ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ vcf1afile_gz <- system.file("extdata", "set1a.vcf.gz", package = "BinaryDosage") vcf1ainfo <- system.file("extdata", "set1a.info", package = "BinaryDosage") bdfile1a_woinfo_gz <- tempfile() vcftobd(vcffiles = vcf1afile_gz, bdfiles = bdfile1a_woinfo_gz) bdfile1a_winfo_gz <- tempfile() vcftobd(vcffiles = c(vcf1afile_gz, vcf1ainfo), bdfiles = bdfile1a_winfo_gz) ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ bdinfo1a_woinfo_gz <- getbdinfo(bdfiles = bdfile1a_woinfo_gz) bdinfo1a_winfo_gz <- getbdinfo(bdfiles = bdfile1a_winfo_gz) aaf1a_woinfo <- unlist(bdapply(bdinfo = bdinfo1a_woinfo, getaaf)) aaf1a_winfo <- unlist(bdapply(bdinfo = bdinfo1a_winfo, getaaf)) aaf1a_woinfo_gz <- unlist(bdapply(bdinfo = bdinfo1a_woinfo_gz, getaaf)) aaf1a_winfo_gz <- unlist(bdapply(bdinfo = bdinfo1a_winfo_gz, getaaf)) aaf1a <- data.frame(SNPID = bdinfo1a_woinfo$snps$snpid, aaf1a_woinfo = aaf1a_woinfo, aaf1a_winfo = aaf1a_winfo, aaf1a_woinfo_gz = aaf1a_woinfo_gz, aaf1a_winfo_gz = aaf1a_winfo_gz) knitr::kable(aaf1a, caption = "Alternate Allele Frequencies", digits = 4) ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ vcf2afile <- system.file("extdata", "set2a.vcf", package = "BinaryDosage") bdfile2a <- tempfile() vcftobd(vcffiles = vcf2afile, bdfiles = bdfile2a) bdinfo2a <- getbdinfo(bdfiles = bdfile2a) snp1_2a <- data.frame(getsnp(bdinfo = bdinfo2a, snp = 1L, dosageonly = FALSE)) snp1 <- cbind(SubjectID = bdinfo2a$samples$sid, snp1_2a) knitr::kable(snp1[1:10,], caption = "Dosage and Genotype Probabilities") ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ vcf1brsfile <- system.file("extdata", "set1b_rssnp.vcf", package = "BinaryDosage") bdfile1b.snpid0 <- tempfile() bdfile1b.snpid1 <- tempfile() bdfile1b.snpid2 <- tempfile() bdfile1b.snpidm1 <- tempfile() vcftobd(vcffiles = vcf1brsfile, bdfiles = bdfile1b.snpid0) vcftobd(vcffiles = vcf1brsfile, bdfiles = bdfile1b.snpid1, snpidformat = 1) vcftobd(vcffiles = vcf1brsfile, bdfiles = bdfile1b.snpid2, snpidformat = 2) vcftobd(vcffiles = vcf1brsfile, bdfiles = bdfile1b.snpidm1, snpidformat = -1) bdinfo1b.snpid0 <- getbdinfo(bdfiles = bdfile1b.snpid0) bdinfo1b.snpid1 <- getbdinfo(bdfiles = bdfile1b.snpid1) bdinfo1b.snpid2 <- getbdinfo(bdfiles = bdfile1b.snpid2) bdinfo1b.snpidm1 <- getbdinfo(bdfiles = bdfile1b.snpidm1) snpnames <- data.frame(format0 = bdinfo1b.snpid0$snps$snpid, format1 = bdinfo1b.snpid1$snps$snpid, format2 = bdinfo1b.snpid2$snps$snpid, formatm1 = bdinfo1b.snpidm1$snps$snpid) knitr::kable(snpnames, caption = "SNP Names by Format") ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ vcf1afile <- system.file("extdata", "set1a.vcf", package = "BinaryDosage") bdfile1a_calcinfo <- tempfile() vcftobd(vcffiles = vcf1afile, bdfiles = bdfile1a_calcinfo, bdoptions = c("aaf", "maf", "rsq")) bdcalcinfo <- getbdinfo(bdfile1a_calcinfo) snpinfo <- data.frame(aaf_info = bdinfo1a_winfo$snpinfo$aaf, aaf_calc = bdcalcinfo$snpinfo$aaf, maf_info = bdinfo1a_winfo$snpinfo$maf, maf_calc = bdcalcinfo$snpinfo$maf, rsq_info = bdinfo1a_winfo$snpinfo$rsq, rsq_calc = bdcalcinfo$snpinfo$rsq) knitr::kable(snpinfo, caption = "Information vs Calculated Information", digits = 3) ## ---- eval = T, echo = T, message = F, warning = F, tidy = T------------------ vcf1afile <- system.file("extdata", "set1a.vcf", package = "BinaryDosage") vcfinfo <- getvcfinfo(vcf1afile, index = TRUE) aaf <- unlist(vcfapply(vcfinfo = vcfinfo, getaaf)) altallelefreq <- data.frame(SNP = vcfinfo$snps$snpid, aafinfo = aaf1a_winfo, aafcalc = aaf) knitr::kable(altallelefreq, caption = "Information vs Calculated aaf", digits = 3)