diff --git a/DESCRIPTION b/DESCRIPTION index 55f0808..e42d24d 100644 --- a/DESCRIPTION +++ b/DESCRIPTION @@ -1,7 +1,7 @@ Package: plinkQC Type: Package Title: Genotype Quality Control with 'PLINK' -Version: 0.3.1 +Version: 0.3.2 Authors@R: person("Hannah", "Meyer", email = "hannah.v.meyer@gmail.com", role = c("aut", "cre"), comment = c(ORCID = "0000-0003-4564-0899")) @@ -43,5 +43,5 @@ SystemRequirements: plink (1.9) Encoding: UTF-8 LazyData: true -RoxygenNote: 6.1.1 +RoxygenNote: 7.1.0 VignetteBuilder: knitr diff --git a/NEWS.md b/NEWS.md index 41851a2..d8d8baa 100644 --- a/NEWS.md +++ b/NEWS.md @@ -1,46 +1,60 @@ +# plinkQC 0.3.2 +## minor changes +* Add checks and tests in `evaluate_check_ancestry` for missing non-reference samples +[5c03971](https://github.com/meyer-lab/plinkQC/commit/5c03971b92341b5a8cb26a1d5f2e37d637f5cbd7) +* Clarified tutorials: + * R internal file.copy instead of systems `cp` command to make run on windows: [6c91ef3](https://github.com/meyer-lab/plinkQC/commit/6c91ef3368f601658967f88bc20db94a28307fce), + fixes [#26](https://github.com/meyer-lab/plinkQC/issues/26) + * Add additional filter for A->T, C->G variants as suggested in [#24](https://github.com/meyer-lab/plinkQC/issues/24); [11e0375](https://github.com/meyer-lab/plinkQC/commit/11e03756852215915310a836d2e73dbcedf12bfc) +* Fixed plotting issues in PCA plot of ancestry check: + * allow for supplying names of European reference population [ae09e64](https://github.com/meyer-lab/plinkQC/commit/ae09e64ee2eaeb8337b60b24b126a9c049d6315f) + * provide argument to specify number of populations per legend row [c7fe85d](https://github.com/meyer-lab/plinkQC/commit/c7fe85d555c256bf8be3843803ff1cc445f7898f) + * Ensure correct ordering of population colors when reference population is not HapMap [86275b7](https://github.com/meyer-lab/plinkQC/commit/86275b7c281835681f38ab16672db61c288cfed9) + # plinkQC 0.3.1 ## minor changes -* Fixed dead links in vignettes (caused by migration of repository): da987d8f225aa6aca0596b9c4f6a2484b102bdb6 -* Added note about chrY in Hapmap data (vignette): e8afbb9842ed9421461a8114ac0a00f7955cf0c0 + +* Fixed dead links in vignettes (caused by migration of repository): [da987d8](https://github.com/meyer-lab/plinkQC/commit/da987d8f225aa6aca0596b9c4f6a2484b102bdb6) +* Added note about chrY in Hapmap data (vignette): [e8afbb9](https://github.com/meyer-lab/plinkQC/commit/e8afbb9842ed9421461a8114ac0a00f7955cf0c0) * Added note about recommended use of plink1.9 (vs 2.0): -b69d3d71d23e9b161176a635fcb2b5a2b524591f +[b69d3d7](https://github.com/meyer-lab/plinkQC/commit/b69d3d71d23e9b161176a635fcb2b5a2b524591f) # plinkQC 0.3.0 ## major changes * Relationship filter can handle more complicated relationship scenarios as - observed in plant genotype sets (fixed #11) + observed in plant genotype sets (fixed [#11](https://github.com/meyer-lab/plinkQC/issues/11)) * code moved to the meyer-lab repository: https://github.com/meyer-lab-cshl/plinkQC # plinkQC 0.2.3 ## major changes * Enable return of overview plots as ggplot object - (fixes #6 in ab2e840f0f22ccdeb5317475698aa58e7eecd345 and - 101e74e318752b2f8038330245d875f6afd5b57b) + (fixes [#6](https://github.com/meyer-lab/plinkQC/issues/6) in [ab2e840](https://github.com/meyer-lab/plinkQC/commit/ab2e840f0f22ccdeb5317475698aa58e7eecd345) and + [101e74e](https://github.com/meyer-lab/plinkQC/commit/101e74e318752b2f8038330245d875f6afd5b57b)) * Relationship filter now deals with more complicated relationship scenarios as - observed in plant genotype sets (fixed #11) + observed in plant genotype sets (addresses [#11](https://github.com/meyer-lab/plinkQC/issues/11)) ## minor changes * give user option to choose maf threshold for relatedness filtering (relates to - #3) + [#3](https://github.com/meyer-lab/plinkQC/issues/3)) ## bug fixes -* Include check for zero related individuals fixing #3 in - 1445a88d41d985e73ffdd161144229683f8352cd +* Include check for zero related individuals fixing [#3](https://github.com/meyer-lab/plinkQC/issues/3) in + [1445a88](https://github.com/meyer-lab/plinkQC/commit/1445a88d41d985e73ffdd161144229683f8352cd) * Include check in case all samples fail perIndividual QC in - 894acc1fa03dadfe0ad2028888142171bcc641eb and - 04642246d18ed4eaac5b9d9a6931d1ecb08308e8) + [894acc1](https://github.com/meyer-lab/plinkQC/commit/894acc1fa03dadfe0ad2028888142171bcc641eb) and + [0464224](https://github.com/meyer-lab/plinkQC/commit/04642246d18ed4eaac5b9d9a6931d1ecb08308e8)) * Include checks for diagonal derived relationship estimates, and estimate data - containing only related individuals; fixes #11 + containing only related individuals; addresses [#11](https://github.com/meyer-lab/plinkQC/issues/11) * Fix command for genotype conversion in 1000Genomes vignette, addressing issue - #10 + [#10](https://github.com/meyer-lab/plinkQC/issues/10) * fix missing rownames error for overviewPerIndividualQC, when relatedness check - was included (issue #16, fc7a38b1f2b345d9c6c5d69f5dcf0bc57a857f62) -* fix vignette mismatch (issue #16, 09dcd59e77178b35747aae81a5c1988712e20de9) + was included (issue [#16](https://github.com/meyer-lab/plinkQC/issues/16), [fc7a38b](https://github.com/meyer-lab/plinkQC/commit/fc7a38b1f2b345d9c6c5d69f5dcf0bc57a857f62)) +* fix vignette mismatch (issue [#16](https://github.com/meyer-lab/plinkQC/issues/16), [09dcd59](https://github.com/meyer-lab/plinkQC/commit/09dcd59e77178b35747aae81a5c1988712e20de9)) # plinkQC 0.2.2 ## minor changes * Fix IDs written to fail.IDs file: previous versions wrote IID,IID, now fixed -to FID, IID (fixes #2). +to FID, IID (fixes [#2](https://github.com/meyer-lab/plinkQC/issues/2)). # plinkQC 0.2.1 ## minor changes diff --git a/R/individualQC.R b/R/individualQC.R index e6c190e..68aae5e 100755 --- a/R/individualQC.R +++ b/R/individualQC.R @@ -916,11 +916,13 @@ check_relatedness <- function(indir, name, qcdir=indir, highIBDTh=0.1875, check_ancestry <- function(indir, name, qcdir=indir, prefixMergedDataset, europeanTh=1.5, + refPopulation=c("CEU", "TSI"), refSamples=NULL, refColors=NULL, refSamplesFile=NULL, refColorsFile=NULL, refSamplesIID="IID", refSamplesPop="Pop", refColorsColor="Color", refColorsPop="Pop", studyColor="#2c7bb6", + legend_labels_per_row=6, run.check_ancestry=TRUE, interactive=FALSE, verbose=verbose, path2plink=NULL, showPlinkOutput=TRUE) { @@ -934,6 +936,7 @@ check_ancestry <- function(indir, name, qcdir=indir, prefixMergedDataset, fail <- evaluate_check_ancestry(qcdir=qcdir, indir=indir, name=name, prefixMergedDataset=prefixMergedDataset, europeanTh=europeanTh, + refPopulation=refPopulation, refSamples=refSamples, refColors=refColors, refSamplesFile=refSamplesFile, @@ -943,6 +946,7 @@ check_ancestry <- function(indir, name, qcdir=indir, prefixMergedDataset, refColorsColor=refColorsColor, refColorsPop=refColorsPop, studyColor=studyColor, + legend_labels_per_row=legend_labels_per_row, interactive=interactive) return(fail) } @@ -1789,6 +1793,9 @@ run_check_ancestry <- function(indir, prefixMergedDataset, #' considered to be of European descent and samples outside this radius of #' non-European descent. The radius is computed as the maximum Euclidean distance #' of European reference samples to the centre of European reference samples. +#' @param refPopulation [vector] Vector with population identifiers of European +#' reference population. Identifiers have to be corresponding to population IDs +#' [refColorsPop] in refColorsfile/refColors. #' @param refSamples [data.frame] Dataframe with sample identifiers #' [refSamplesIID] corresponding to IIDs in prefixMergedDataset.eigenvec and #' population identifier [refSamplesPop] corresponding to population IDs @@ -1820,6 +1827,7 @@ run_check_ancestry <- function(indir, prefixMergedDataset, #' IDs in refColors/refColorsFile. #' @param studyColor [character] Colour to be used for study population if plot #' is TRUE. +#' @param legend_labels_per_row [integer] Number of population names per row in PCA plot. #' @param interactive [logical] Should plots be shown interactively? When #' choosing this option, make sure you have X-forwarding/graphical interface #' available for interactive plotting. Alternatively, set interactive=FALSE and @@ -1849,6 +1857,8 @@ evaluate_check_ancestry <- function(indir, name, prefixMergedDataset, refSamplesIID="IID", refSamplesPop="Pop", refColorsColor="Color", refColorsPop="Pop", studyColor="#2c7bb6", + refPopulation=c("CEU", "TSI"), + legend_labels_per_row=6, interactive=FALSE) { prefix <- makepath(indir, name) @@ -1866,11 +1876,20 @@ evaluate_check_ancestry <- function(indir, name, prefixMergedDataset, if (!file.exists(paste(out, ".eigenvec", sep=""))){ stop("plink --pca output file: ", out, ".eigenvec does not exist.") } - testNumerics(numbers=europeanTh, positives=europeanTh) + testNumerics(numbers=c(europeanTh, legend_labels_per_row), + positives=c(europeanTh, legend_labels_per_row)) pca_data <- data.table::fread(paste(out, ".eigenvec", sep=""), stringsAsFactors=FALSE, data.table=FALSE) colnames(pca_data) <- c("FID", "IID", paste("PC",1:(ncol(pca_data)-2), sep="")) + if (!any(samples$IID %in% pca_data$IID)) { + stop("There are no ", prefix, ".fam samples in the prefixMergedDataset") + } + if (!all(samples$IID %in% pca_data$IID)) { + stop("Not all ", prefix, ".fam samples are present in the", + "prefixMergedDataset") + } + #pca_data$IID <- as.character(pca_data$IID) #pca_data$FID <- as.character(pca_data$FID) @@ -1926,6 +1945,12 @@ evaluate_check_ancestry <- function(indir, name, prefixMergedDataset, refColors; missing population codes: ", paste(missing, collapse=",")) } + if (!all(refPopulation %in% refColors$Pop)) { + missing <- refPopulation[!refPopulation %in% refColors$Pop] + stop("Not all refPopulation populations found in population code of + refColors; missing population codes: ", paste(missing, + collapse=",")) + } refSamples <- merge(refSamples, refColors, by="Pop", all.X=TRUE) ## Combine pca data and population information #### @@ -1936,14 +1961,15 @@ evaluate_check_ancestry <- function(indir, name, prefixMergedDataset, stop("There are samples in the prefixMergedDataset that cannot be found in refSamples or ", prefix, ".fam") } - data_all <- data_all[order(data_all$Pop, decreasing=FALSE),] - refColors <- rbind(refColors, c(name, studyColor)) - data_all$Color <- as.factor(data_all$Color) - data_all$Pop <- factor(data_all$Pop, levels=refColors$Pop) + colors <- dplyr::select_(data_all, ~Pop, ~Color) + colors <- colors[!duplicated(colors$Pop),] + colors <- colors[order(colors$Color),] + colors$Pop <- factor(colors$Pop, levels=unique(colors$Pop)) + data_all$Pop <- factor(data_all$Pop, levels=levels(colors$Pop)) ## Find mean coordinates and distances of reference Europeans #### - all_european <- dplyr::filter_(data_all, ~Pop %in% c("CEU", "TSI")) + all_european <- dplyr::filter_(data_all, ~Pop %in% refPopulation) euro_pc1_mean <- mean(all_european$PC1) euro_pc2_mean <- mean(all_european$PC2) @@ -1959,17 +1985,17 @@ evaluate_check_ancestry <- function(indir, name, prefixMergedDataset, non_europeans <- dplyr::filter_(data_name, ~euclid_dist > (max_euclid_dist * europeanTh)) fail_ancestry <- dplyr::select_(non_europeans, ~FID, ~IID) + legend_rows <- round(nrow(colors)/legend_labels_per_row) p_ancestry <- ggplot() - p_ancestry <- p_ancestry + geom_point(data=data_all, - aes_string(x='PC1', y='PC2', - color='Pop')) + + p_ancestry <- p_ancestry + + geom_point(data=data_all, + aes_string(x='PC1', y='PC2', color='Pop')) + geom_point(data=dplyr::filter_(data_all, ~Pop != name), - aes_string(x='PC1', y='PC2', - color='Pop'), + aes_string(x='PC1', y='PC2', color='Pop'), size=1) + - scale_color_manual(values=refColors$Color, + scale_color_manual(values=colors$Color, name="Population") + - guides(color=guide_legend(nrow=2, byrow=TRUE)) + + guides(color=guide_legend(nrow=legend_rows, byrow=TRUE)) + ggforce::geom_circle(aes(x0=euro_pc1_mean, y0=euro_pc2_mean, r=(max_euclid_dist * europeanTh))) + ggtitle("PCA on combined reference and study genotypes") + diff --git a/inst/extdata/data.fail-IBD.IDs b/inst/extdata/data.fail-IBD.IDs deleted file mode 100644 index d09a39e..0000000 --- a/inst/extdata/data.fail-IBD.IDs +++ /dev/null @@ -1,14 +0,0 @@ -FID IID -ID_162 ID_162 -ID_167 ID_167 -ID_168 ID_168 -ID_155 ID_155 -ID_159 ID_159 -ID_156 ID_156 -ID_157 ID_157 -ID_158 ID_158 -ID_160 ID_160 -ID_161 ID_161 -ID_152 ID_152 -ID_153 ID_153 -ID_154 ID_154 diff --git a/man/check_ancestry.Rd b/man/check_ancestry.Rd index 507f676..5f440a6 100644 --- a/man/check_ancestry.Rd +++ b/man/check_ancestry.Rd @@ -4,13 +4,29 @@ \alias{check_ancestry} \title{Identification of individuals of divergent ancestry} \usage{ -check_ancestry(indir, name, qcdir = indir, prefixMergedDataset, - europeanTh = 1.5, refSamples = NULL, refColors = NULL, - refSamplesFile = NULL, refColorsFile = NULL, refSamplesIID = "IID", - refSamplesPop = "Pop", refColorsColor = "Color", - refColorsPop = "Pop", studyColor = "#2c7bb6", - run.check_ancestry = TRUE, interactive = FALSE, verbose = verbose, - path2plink = NULL, showPlinkOutput = TRUE) +check_ancestry( + indir, + name, + qcdir = indir, + prefixMergedDataset, + europeanTh = 1.5, + refPopulation = c("CEU", "TSI"), + refSamples = NULL, + refColors = NULL, + refSamplesFile = NULL, + refColorsFile = NULL, + refSamplesIID = "IID", + refSamplesPop = "Pop", + refColorsColor = "Color", + refColorsPop = "Pop", + studyColor = "#2c7bb6", + legend_labels_per_row = 6, + run.check_ancestry = TRUE, + interactive = FALSE, + verbose = verbose, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data @@ -37,6 +53,10 @@ non-European descent. The radius is computed as the maximum Euclidean distance of European reference samples to the centre of European reference samples.} +\item{refPopulation}{[vector] Vector with population identifiers of European +reference population. Identifiers have to be corresponding to population IDs +[refColorsPop] in refColorsfile/refColors.} + \item{refSamples}{[data.frame] Dataframe with sample identifiers [refSamplesIID] corresponding to IIDs in prefixMergedDataset.eigenvec and population identifier [refSamplesPop] corresponding to population IDs @@ -73,6 +93,8 @@ IDs in refColors/refColorsFile.} \item{studyColor}{[character] Colour to be used for study population.} +\item{legend_labels_per_row}{[integer] Number of population names per row in PCA plot.} + \item{run.check_ancestry}{[logical] Should plink --pca be run to determine principal components of merged dataset; if FALSE, it is assumed that plink --pca has been run successfully and diff --git a/man/check_het_and_miss.Rd b/man/check_het_and_miss.Rd index d6a87ab..db93ad0 100644 --- a/man/check_het_and_miss.Rd +++ b/man/check_het_and_miss.Rd @@ -5,10 +5,19 @@ \title{Identification of individuals with outlying missing genotype or heterozygosity rates} \usage{ -check_het_and_miss(indir, name, qcdir = indir, imissTh = 0.03, - hetTh = 3, run.check_het_and_miss = TRUE, label = TRUE, - interactive = FALSE, verbose = FALSE, path2plink = NULL, - showPlinkOutput = TRUE) +check_het_and_miss( + indir, + name, + qcdir = indir, + imissTh = 0.03, + hetTh = 3, + run.check_het_and_miss = TRUE, + label = TRUE, + interactive = FALSE, + verbose = FALSE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/check_hwe.Rd b/man/check_hwe.Rd index fece4eb..f3e6324 100644 --- a/man/check_hwe.Rd +++ b/man/check_hwe.Rd @@ -5,9 +5,16 @@ \title{Identification of SNPs showing a significant deviation from Hardy-Weinberg- equilibrium (HWE)} \usage{ -check_hwe(indir, name, qcdir = indir, hweTh = 1e-05, - interactive = FALSE, path2plink = NULL, verbose = FALSE, - showPlinkOutput = TRUE) +check_hwe( + indir, + name, + qcdir = indir, + hweTh = 1e-05, + interactive = FALSE, + path2plink = NULL, + verbose = FALSE, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/check_maf.Rd b/man/check_maf.Rd index 60e1172..609e1f3 100644 --- a/man/check_maf.Rd +++ b/man/check_maf.Rd @@ -4,9 +4,17 @@ \alias{check_maf} \title{Identification of SNPs with low minor allele frequency} \usage{ -check_maf(indir, name, qcdir = indir, macTh = 20, mafTh = NULL, - verbose = FALSE, interactive = FALSE, path2plink = NULL, - showPlinkOutput = TRUE) +check_maf( + indir, + name, + qcdir = indir, + macTh = 20, + mafTh = NULL, + verbose = FALSE, + interactive = FALSE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/check_relatedness.Rd b/man/check_relatedness.Rd index a2a6b35..99bb945 100644 --- a/man/check_relatedness.Rd +++ b/man/check_relatedness.Rd @@ -4,10 +4,20 @@ \alias{check_relatedness} \title{Identification of related individuals} \usage{ -check_relatedness(indir, name, qcdir = indir, highIBDTh = 0.1875, - genomebuild = "hg19", imissTh = 0.03, run.check_relatedness = TRUE, - interactive = FALSE, verbose = FALSE, mafThRelatedness = 0.1, - path2plink = NULL, showPlinkOutput = TRUE) +check_relatedness( + indir, + name, + qcdir = indir, + highIBDTh = 0.1875, + genomebuild = "hg19", + imissTh = 0.03, + run.check_relatedness = TRUE, + interactive = FALSE, + verbose = FALSE, + mafThRelatedness = 0.1, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/check_sex.Rd b/man/check_sex.Rd index 82c4664..9420e52 100644 --- a/man/check_sex.Rd +++ b/man/check_sex.Rd @@ -4,11 +4,25 @@ \alias{check_sex} \title{Identification of individuals with discordant sex information} \usage{ -check_sex(indir, name, qcdir = indir, maleTh = 0.8, femaleTh = 0.2, - run.check_sex = TRUE, externalSex = NULL, externalFemale = "F", - externalMale = "M", externalSexSex = "Sex", externalSexID = "IID", - fixMixup = FALSE, interactive = FALSE, verbose = FALSE, - label = TRUE, path2plink = NULL, showPlinkOutput = TRUE) +check_sex( + indir, + name, + qcdir = indir, + maleTh = 0.8, + femaleTh = 0.2, + run.check_sex = TRUE, + externalSex = NULL, + externalFemale = "F", + externalMale = "M", + externalSexSex = "Sex", + externalSexID = "IID", + fixMixup = FALSE, + interactive = FALSE, + verbose = FALSE, + label = TRUE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/check_snp_missingness.Rd b/man/check_snp_missingness.Rd index 77ff950..5cc89db 100644 --- a/man/check_snp_missingness.Rd +++ b/man/check_snp_missingness.Rd @@ -4,9 +4,16 @@ \alias{check_snp_missingness} \title{Identification of SNPs with high missingness rate} \usage{ -check_snp_missingness(indir, name, qcdir = indir, lmissTh = 0.01, - interactive = FALSE, path2plink = NULL, verbose = FALSE, - showPlinkOutput = TRUE) +check_snp_missingness( + indir, + name, + qcdir = indir, + lmissTh = 0.01, + interactive = FALSE, + path2plink = NULL, + verbose = FALSE, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/cleanData.Rd b/man/cleanData.Rd index f7691b7..2ebd572 100644 --- a/man/cleanData.Rd +++ b/man/cleanData.Rd @@ -4,12 +4,26 @@ \alias{cleanData} \title{Create plink dataset with individuals and markers passing quality control} \usage{ -cleanData(indir, name, qcdir = indir, filterSex = TRUE, - filterHeterozygosity = TRUE, filterSampleMissingness = TRUE, - filterAncestry = TRUE, filterRelated = TRUE, - filterSNPMissingness = TRUE, lmissTh = 0.01, filterHWE = TRUE, - hweTh = 1e-05, filterMAF = TRUE, macTh = 20, mafTh = NULL, - path2plink = NULL, verbose = FALSE, showPlinkOutput = TRUE) +cleanData( + indir, + name, + qcdir = indir, + filterSex = TRUE, + filterHeterozygosity = TRUE, + filterSampleMissingness = TRUE, + filterAncestry = TRUE, + filterRelated = TRUE, + filterSNPMissingness = TRUE, + lmissTh = 0.01, + filterHWE = TRUE, + hweTh = 1e-05, + filterMAF = TRUE, + macTh = 20, + mafTh = NULL, + path2plink = NULL, + verbose = FALSE, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/evaluate_check_ancestry.Rd b/man/evaluate_check_ancestry.Rd index 24db6b5..70919d7 100644 --- a/man/evaluate_check_ancestry.Rd +++ b/man/evaluate_check_ancestry.Rd @@ -4,11 +4,25 @@ \alias{evaluate_check_ancestry} \title{Evaluate results from PLINK PCA on combined study and reference data} \usage{ -evaluate_check_ancestry(indir, name, prefixMergedDataset, qcdir = indir, - europeanTh = 1.5, refSamples = NULL, refColors = NULL, - refSamplesFile = NULL, refColorsFile = NULL, refSamplesIID = "IID", - refSamplesPop = "Pop", refColorsColor = "Color", - refColorsPop = "Pop", studyColor = "#2c7bb6", interactive = FALSE) +evaluate_check_ancestry( + indir, + name, + prefixMergedDataset, + qcdir = indir, + europeanTh = 1.5, + refSamples = NULL, + refColors = NULL, + refSamplesFile = NULL, + refColorsFile = NULL, + refSamplesIID = "IID", + refSamplesPop = "Pop", + refColorsColor = "Color", + refColorsPop = "Pop", + studyColor = "#2c7bb6", + refPopulation = c("CEU", "TSI"), + legend_labels_per_row = 6, + interactive = FALSE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data @@ -71,6 +85,12 @@ IDs in refColors/refColorsFile.} \item{studyColor}{[character] Colour to be used for study population if plot is TRUE.} +\item{refPopulation}{[vector] Vector with population identifiers of European +reference population. Identifiers have to be corresponding to population IDs +[refColorsPop] in refColorsfile/refColors.} + +\item{legend_labels_per_row}{[integer] Number of population names per row in PCA plot.} + \item{interactive}{[logical] Should plots be shown interactively? When choosing this option, make sure you have X-forwarding/graphical interface available for interactive plotting. Alternatively, set interactive=FALSE and diff --git a/man/evaluate_check_het_and_miss.Rd b/man/evaluate_check_het_and_miss.Rd index 0d8b74e..7d3900d 100644 --- a/man/evaluate_check_het_and_miss.Rd +++ b/man/evaluate_check_het_and_miss.Rd @@ -4,8 +4,14 @@ \alias{evaluate_check_het_and_miss} \title{Evaluate results from PLINK missing genotype and heterozygosity rate check.} \usage{ -evaluate_check_het_and_miss(qcdir, name, imissTh = 0.03, hetTh = 3, - label = TRUE, interactive = FALSE) +evaluate_check_het_and_miss( + qcdir, + name, + imissTh = 0.03, + hetTh = 3, + label = TRUE, + interactive = FALSE +) } \arguments{ \item{qcdir}{[character] path/to/directory/with/QC/results containing diff --git a/man/evaluate_check_relatedness.Rd b/man/evaluate_check_relatedness.Rd index 02a6914..c81cb9a 100644 --- a/man/evaluate_check_relatedness.Rd +++ b/man/evaluate_check_relatedness.Rd @@ -4,8 +4,14 @@ \alias{evaluate_check_relatedness} \title{Evaluate results from PLINK IBD estimation.} \usage{ -evaluate_check_relatedness(qcdir, name, highIBDTh = 0.1875, - imissTh = 0.03, interactive = FALSE, verbose = FALSE) +evaluate_check_relatedness( + qcdir, + name, + highIBDTh = 0.1875, + imissTh = 0.03, + interactive = FALSE, + verbose = FALSE +) } \arguments{ \item{qcdir}{[character] path/to/directory/with/QC/results containing diff --git a/man/evaluate_check_sex.Rd b/man/evaluate_check_sex.Rd index 7532131..8da7e8c 100644 --- a/man/evaluate_check_sex.Rd +++ b/man/evaluate_check_sex.Rd @@ -4,11 +4,24 @@ \alias{evaluate_check_sex} \title{Evaluate results from PLINK sex check.} \usage{ -evaluate_check_sex(qcdir, name, maleTh = 0.8, femaleTh = 0.2, - externalSex = NULL, fixMixup = FALSE, indir = qcdir, - externalFemale = "F", externalMale = "M", externalSexSex = "Sex", - externalSexID = "IID", verbose = FALSE, label = TRUE, - path2plink = NULL, showPlinkOutput = TRUE, interactive = FALSE) +evaluate_check_sex( + qcdir, + name, + maleTh = 0.8, + femaleTh = 0.2, + externalSex = NULL, + fixMixup = FALSE, + indir = qcdir, + externalFemale = "F", + externalMale = "M", + externalSexSex = "Sex", + externalSexID = "IID", + verbose = FALSE, + label = TRUE, + path2plink = NULL, + showPlinkOutput = TRUE, + interactive = FALSE +) } \arguments{ \item{qcdir}{[character] /path/to/directory containing name.sexcheck as diff --git a/man/perIndividualQC.Rd b/man/perIndividualQC.Rd index 310626d..13aeccc 100644 --- a/man/perIndividualQC.Rd +++ b/man/perIndividualQC.Rd @@ -4,24 +4,52 @@ \alias{perIndividualQC} \title{Quality control for all individuals in plink-dataset} \usage{ -perIndividualQC(indir, name, qcdir = indir, dont.check_sex = FALSE, - do.run_check_sex = TRUE, do.evaluate_check_sex = TRUE, - maleTh = 0.8, femaleTh = 0.2, externalSex = NULL, - externalMale = "M", externalSexSex = "Sex", externalSexID = "IID", - externalFemale = "F", fixMixup = FALSE, - dont.check_het_and_miss = FALSE, do.run_check_het_and_miss = TRUE, - do.evaluate_check_het_and_miss = TRUE, imissTh = 0.03, hetTh = 3, - dont.check_relatedness = FALSE, do.run_check_relatedness = TRUE, - do.evaluate_check_relatedness = TRUE, highIBDTh = 0.1875, - mafThRelatedness = 0.1, genomebuild = "hg19", - dont.check_ancestry = FALSE, do.run_check_ancestry = TRUE, - do.evaluate_check_ancestry = TRUE, prefixMergedDataset, - europeanTh = 1.5, refSamples = NULL, refColors = NULL, - refSamplesFile = NULL, refColorsFile = NULL, refSamplesIID = "IID", - refSamplesPop = "Pop", refColorsColor = "Color", - refColorsPop = "Pop", studyColor = "#2c7bb6", label = TRUE, - interactive = FALSE, verbose = TRUE, path2plink = NULL, - showPlinkOutput = TRUE) +perIndividualQC( + indir, + name, + qcdir = indir, + dont.check_sex = FALSE, + do.run_check_sex = TRUE, + do.evaluate_check_sex = TRUE, + maleTh = 0.8, + femaleTh = 0.2, + externalSex = NULL, + externalMale = "M", + externalSexSex = "Sex", + externalSexID = "IID", + externalFemale = "F", + fixMixup = FALSE, + dont.check_het_and_miss = FALSE, + do.run_check_het_and_miss = TRUE, + do.evaluate_check_het_and_miss = TRUE, + imissTh = 0.03, + hetTh = 3, + dont.check_relatedness = FALSE, + do.run_check_relatedness = TRUE, + do.evaluate_check_relatedness = TRUE, + highIBDTh = 0.1875, + mafThRelatedness = 0.1, + genomebuild = "hg19", + dont.check_ancestry = FALSE, + do.run_check_ancestry = TRUE, + do.evaluate_check_ancestry = TRUE, + prefixMergedDataset, + europeanTh = 1.5, + refSamples = NULL, + refColors = NULL, + refSamplesFile = NULL, + refColorsFile = NULL, + refSamplesIID = "IID", + refSamplesPop = "Pop", + refColorsColor = "Color", + refColorsPop = "Pop", + studyColor = "#2c7bb6", + label = TRUE, + interactive = FALSE, + verbose = TRUE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/perMarkerQC.Rd b/man/perMarkerQC.Rd index 4a129b5..74f2c1b 100644 --- a/man/perMarkerQC.Rd +++ b/man/perMarkerQC.Rd @@ -4,11 +4,22 @@ \alias{perMarkerQC} \title{Quality control for all markers in plink-dataset} \usage{ -perMarkerQC(indir, qcdir = indir, name, - do.check_snp_missingness = TRUE, lmissTh = 0.01, - do.check_hwe = TRUE, hweTh = 1e-05, do.check_maf = TRUE, - macTh = 20, mafTh = NULL, interactive = FALSE, verbose = TRUE, - path2plink = NULL, showPlinkOutput = TRUE) +perMarkerQC( + indir, + qcdir = indir, + name, + do.check_snp_missingness = TRUE, + lmissTh = 0.01, + do.check_hwe = TRUE, + hweTh = 1e-05, + do.check_maf = TRUE, + macTh = 20, + mafTh = NULL, + interactive = FALSE, + verbose = TRUE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/plinkQC.Rd b/man/plinkQC.Rd index 12121f2..acba21b 100644 --- a/man/plinkQC.Rd +++ b/man/plinkQC.Rd @@ -3,9 +3,5 @@ \docType{package} \name{plinkQC} \alias{plinkQC} -\alias{plinkQC-package} \title{plinkQC} -\description{ -plinkQC -} \keyword{internal} diff --git a/man/relatednessFilter.Rd b/man/relatednessFilter.Rd index 9c0e989..a22a5b9 100644 --- a/man/relatednessFilter.Rd +++ b/man/relatednessFilter.Rd @@ -4,13 +4,21 @@ \alias{relatednessFilter} \title{Remove related individuals while keeping maximum number of individuals} \usage{ -relatednessFilter(relatedness, otherCriterion = NULL, relatednessTh, - otherCriterionTh = NULL, otherCriterionThDirection = c("gt", "ge", - "lt", "le", "eq"), relatednessIID1 = "IID1", - relatednessIID2 = "IID2", relatednessFID1 = NULL, - relatednessFID2 = NULL, relatednessRelatedness = "PI_HAT", - otherCriterionIID = "IID", otherCriterionMeasure = NULL, - verbose = FALSE) +relatednessFilter( + relatedness, + otherCriterion = NULL, + relatednessTh, + otherCriterionTh = NULL, + otherCriterionThDirection = c("gt", "ge", "lt", "le", "eq"), + relatednessIID1 = "IID1", + relatednessIID2 = "IID2", + relatednessFID1 = NULL, + relatednessFID2 = NULL, + relatednessRelatedness = "PI_HAT", + otherCriterionIID = "IID", + otherCriterionMeasure = NULL, + verbose = FALSE +) } \arguments{ \item{relatedness}{[data.frame] containing pair-wise relatedness estimates diff --git a/man/run_check_ancestry.Rd b/man/run_check_ancestry.Rd index 8b792c8..b916df9 100644 --- a/man/run_check_ancestry.Rd +++ b/man/run_check_ancestry.Rd @@ -4,8 +4,14 @@ \alias{run_check_ancestry} \title{Run PLINK principal component analysis} \usage{ -run_check_ancestry(indir, prefixMergedDataset, qcdir = indir, - verbose = FALSE, path2plink = NULL, showPlinkOutput = TRUE) +run_check_ancestry( + indir, + prefixMergedDataset, + qcdir = indir, + verbose = FALSE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/run_check_heterozygosity.Rd b/man/run_check_heterozygosity.Rd index 3d57cc6..d8c2b72 100644 --- a/man/run_check_heterozygosity.Rd +++ b/man/run_check_heterozygosity.Rd @@ -4,8 +4,14 @@ \alias{run_check_heterozygosity} \title{Run PLINK heterozygosity rate calculation} \usage{ -run_check_heterozygosity(indir, name, qcdir = indir, verbose = FALSE, - path2plink = NULL, showPlinkOutput = TRUE) +run_check_heterozygosity( + indir, + name, + qcdir = indir, + verbose = FALSE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/run_check_missingness.Rd b/man/run_check_missingness.Rd index 159d50a..74a471f 100644 --- a/man/run_check_missingness.Rd +++ b/man/run_check_missingness.Rd @@ -4,8 +4,14 @@ \alias{run_check_missingness} \title{Run PLINK missingness rate calculation} \usage{ -run_check_missingness(indir, name, qcdir = indir, verbose = FALSE, - path2plink = NULL, showPlinkOutput = TRUE) +run_check_missingness( + indir, + name, + qcdir = indir, + verbose = FALSE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/run_check_relatedness.Rd b/man/run_check_relatedness.Rd index cf93ac7..b6ead12 100644 --- a/man/run_check_relatedness.Rd +++ b/man/run_check_relatedness.Rd @@ -4,9 +4,17 @@ \alias{run_check_relatedness} \title{Run PLINK IBD estimation} \usage{ -run_check_relatedness(indir, name, qcdir = indir, highIBDTh = 0.185, - mafThRelatedness = 0.1, path2plink = NULL, genomebuild = "hg19", - showPlinkOutput = TRUE, verbose = FALSE) +run_check_relatedness( + indir, + name, + qcdir = indir, + highIBDTh = 0.185, + mafThRelatedness = 0.1, + path2plink = NULL, + genomebuild = "hg19", + showPlinkOutput = TRUE, + verbose = FALSE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/run_check_sex.Rd b/man/run_check_sex.Rd index bf3d5c3..d398c83 100644 --- a/man/run_check_sex.Rd +++ b/man/run_check_sex.Rd @@ -4,8 +4,14 @@ \alias{run_check_sex} \title{Run PLINK sexcheck} \usage{ -run_check_sex(indir, name, qcdir = indir, verbose = FALSE, - path2plink = NULL, showPlinkOutput = TRUE) +run_check_sex( + indir, + name, + qcdir = indir, + verbose = FALSE, + path2plink = NULL, + showPlinkOutput = TRUE +) } \arguments{ \item{indir}{[character] /path/to/directory containing the basic PLINK data diff --git a/man/testNumerics.Rd b/man/testNumerics.Rd index 14d7293..d8a9f6c 100644 --- a/man/testNumerics.Rd +++ b/man/testNumerics.Rd @@ -4,8 +4,7 @@ \alias{testNumerics} \title{Test lists for different properties of numerics} \usage{ -testNumerics(numbers, positives = NULL, integers = NULL, - proportions = NULL) +testNumerics(numbers, positives = NULL, integers = NULL, proportions = NULL) } \arguments{ \item{numbers}{[list] whose elements are tested for being numeric.} diff --git a/tests/testthat/data.HapMapIII_no_samples.eigenvec b/tests/testthat/data.HapMapIII_no_samples.eigenvec new file mode 100644 index 0000000..b189934 --- /dev/null +++ b/tests/testthat/data.HapMapIII_no_samples.eigenvec @@ -0,0 +1,1184 @@ +1328 NA06984 0.0112364 -0.0131228 +1328 NA06989 0.011215 -0.012809 +1330 NA12335 0.0111011 -0.0133978 +1330 NA12336 0.0111579 -0.0135819 +1330 NA12340 0.0113226 -0.0135114 +1330 NA12341 0.0106949 -0.0132038 +1330 NA12342 0.0115182 -0.013525 +1330 NA12343 0.0112338 -0.0127326 +1334 NA10846 0.0112211 -0.0134252 +1334 NA10847 0.011217 -0.0135979 +1334 NA12144 0.0111611 -0.0130571 +1334 NA12145 0.0111979 -0.0140401 +1334 NA12146 0.0109181 -0.0138649 +1334 NA12239 0.0113968 -0.013171 +1340 NA06994 0.0109126 -0.0124034 +1340 NA07000 0.0112091 -0.0127042 +1340 NA07022 0.0108527 -0.0127343 +1340 NA07029 0.0112237 -0.0125226 +1340 NA07056 0.0112648 -0.012908 +1341 NA06985 0.00996875 -0.0127817 +1341 NA06991 0.0110227 -0.012901 +1341 NA06993 0.0111939 -0.0129679 +1341 NA07055 0.0112207 -0.0130248 +1344 NA10850 0.0113347 -0.0132881 +1344 NA12056 0.0113973 -0.013498 +1344 NA12057 0.0110258 -0.0128913 +1345 NA07345 0.0111624 -0.0131538 +1345 NA07346 0.0115168 -0.0127935 +1345 NA07347 0.0112581 -0.0135068 +1345 NA07348 0.0113013 -0.0135438 +1345 NA07349 0.0113276 -0.0127988 +1345 NA07357 0.0113302 -0.0135404 +1346 NA10852 0.011209 -0.0132409 +1346 NA12043 0.0115969 -0.0132339 +1346 NA12044 0.011445 -0.0127184 +1346 NA12045 0.0112533 -0.0127857 +1347 NA10859 0.0111602 -0.0130235 +1347 NA11881 0.0111384 -0.0128235 +1347 NA11882 0.0111565 -0.0131035 +1349 NA10853 0.0112834 -0.0133026 +1349 NA10854 0.0110971 -0.0125596 +1349 NA11839 0.011205 -0.0129353 +1349 NA11840 0.0100352 -0.012356 +1349 NA11843 0.011212 -0.0135631 +1350 NA10855 0.0107867 -0.013526 +1350 NA10856 0.0112001 -0.0129608 +1350 NA11829 0.011385 -0.0131551 +1350 NA11830 0.0115351 -0.0128352 +1350 NA11831 0.0111177 -0.0132344 +1350 NA11832 0.0110522 -0.0133852 +1353 NA12375 0.0109243 -0.0131913 +1353 NA12376 0.0111172 -0.0135926 +1353 NA12383 0.0109685 -0.0131495 +1353 NA12489 0.0112424 -0.0135034 +1353 NA12546 0.0112103 -0.0127052 +1354 NA12386 0.0113198 -0.0131715 +1354 NA12399 0.0113557 -0.0134936 +1354 NA12400 0.0114199 -0.0131987 +1355 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NA19113 -0.0438045 -0.0023871 +Y079 NA19114 -0.0443496 -0.00281883 +Y079 NA19115 -0.0443182 -0.0022231 +Y092 NA19256 -0.0445661 -0.0028076 +Y092 NA19257 -0.0444937 -0.00244301 +Y092 NA19258 -0.0449945 -0.00234514 +Y100 NA19117 -0.0449435 -0.00285203 +Y100 NA19118 -0.0431785 -0.00248176 +Y100 NA19174 -0.0440412 -0.00291308 +Y101 NA19130 -0.0449331 -0.00229108 +Y101 NA19131 -0.0450411 -0.00245128 +Y101 NA19132 -0.0451599 -0.00226142 +Y105 NA19098 -0.0449583 -0.00277628 +Y105 NA19099 -0.0451767 -0.00333497 +Y110 NA19213 -0.0442251 -0.00281039 +Y110 NA19214 -0.0448161 -0.00243011 +Y110 NA19215 -0.0450132 -0.00288314 +Y111 NA19189 -0.0441865 -0.0033249 +Y111 NA19190 -0.0442801 -0.00235105 +Y111 NA19191 -0.0441814 -0.00296463 +Y112 NA19192 -0.0451793 -0.00240975 +Y112 NA19193 -0.0441439 -0.00286595 +Y112 NA19194 -0.0447848 -0.00273826 +Y116 NA19235 -0.0447566 -0.00252128 +Y116 NA19236 -0.0448487 -0.0025588 +Y116 NA19237 -0.0452576 -0.00256601 +Y117 NA19238 -0.0447691 -0.00232122 +Y117 NA19239 -0.0447459 -0.00259464 +Y117 NA19240 -0.045017 -0.00241725 +Y120 NA19247 -0.0444895 -0.00288768 +Y120 NA19248 -0.0440878 -0.00280791 +Y120 NA19249 -0.0441778 -0.00290227 diff --git a/tests/testthat/test-individualQC.R b/tests/testthat/test-individualQC.R index 2f43d24..0dd6236 100644 --- a/tests/testthat/test-individualQC.R +++ b/tests/testthat/test-individualQC.R @@ -194,11 +194,20 @@ test_that('evaluate_check_ancestry throws missing population code error',{ "Not all refSamples populations") }) +test_that('evaluate_check_ancestry throws missing refPopulation code error',{ + expect_error(evaluate_check_ancestry(qcdir, name, + prefixMergedDataset=prefix, + refSamples=refSamples, + refPopulation = c("CCC")), + "Not all refPopulation populations") +}) + test_that('evaluate_check_ancestry throws missing missing ID error',{ - testRefs <- refSamples[1:4,] + testRefs <- refSamples[84:88,] expect_error(evaluate_check_ancestry(qcdir, name, prefixMergedDataset=prefix, - refSamples=testRefs), + refSamples=testRefs, + refPopulation = "CEU"), "There are samples in the prefixMergedDataset") }) @@ -234,3 +243,16 @@ test_that('evaluate_check_ancestry returns correct fail IDs for example data',{ expect_true(all(fail$fail_ancestry$IID %in% fail_ancestryIDs[,1])) }) +test_that('evaluate_check_ancestry fails with all missing sample error',{ + expect_error(evaluate_check_ancestry( + qcdir, name, prefixMergedDataset="data.HapMapIII_no_samples", + refSamples=refSamples), + "There are no") +}) + +test_that('evaluate_check_ancestry fails with some missing sample error',{ + expect_error(evaluate_check_ancestry( + qcdir, name, prefixMergedDataset="data.HapMapIII_some_samples", + refSamples=refSamples), + "Not all") +}) diff --git a/tests/testthat/test-utils.R b/tests/testthat/test-utils.R index c5178eb..b537689 100644 --- a/tests/testthat/test-utils.R +++ b/tests/testthat/test-utils.R @@ -41,31 +41,27 @@ df_other$values <- 0.6 test_that('relatednessFilter throws missing relatedness IID1 column error',{ expect_error(relatednessFilter(df,relatednessIID1="IID1", relatednessIID2="ID2", - relatednessRelatedness="values"), + relatednessRelatedness="values", + relatednessTh = 0.185), "Column IID1 for relatedness not found") }) test_that('relatednessFilter throws missing relatedness IID2 column error',{ expect_error(relatednessFilter(df,relatednessIID1="ID1", relatednessIID2="IID2", - relatednessRelatedness="values"), + relatednessRelatedness="values", + relatednessTh = 0.185), "Column ID1 for relatedness not found") }) -test_that('relatednessFilter throws missing relatednessTh error',{ - expect_error(relatednessFilter(df,relatednessIID1="ID1", - relatednessIID2="ID2", - relatednessRelatedness="values"), - "argument \"relatednessTh\" is missing, with no default") -}) - test_that('relatednessFilter throws missing relatedness FID1 column error',{ expect_error(relatednessFilter(df,relatednessIID1="ID1", relatednessIID2="ID2", relatednessFID1="FID1", relatednessFID2="FID2", - relatednessRelatedness="values"), + relatednessRelatedness="values", + relatednessTh = 0.185), "Column FID1 for relatedness not found") }) @@ -95,7 +91,8 @@ test_that('relatednessFilter throws colname specification error',{ expect_error(relatednessFilter(df, relatednessFID1="FID", relatednessIID1="ID1", relatednessIID2="ID2", - relatednessRelatedness="values"), + relatednessRelatedness="values", + relatednessTh = 0.1875), "Either none or both, relatednessFID1 and relatednessFID2") }) diff --git a/vignettes/AncestryCheck.Rmd b/vignettes/AncestryCheck.Rmd index 9add4ee..f8f0763 100644 --- a/vignettes/AncestryCheck.Rmd +++ b/vignettes/AncestryCheck.Rmd @@ -72,6 +72,36 @@ matching by chromosome, position and alleles. The following sections show how to extract the relevant data from the reference and study dataset and how to filter matching variants. +### Filter reference and study data for non A-T or G-C SNPs +We will use an awk script to find A→T and C→G SNPs. As these SNPs are more +difficult to align and only a subset of SNPs is required for the anlysis, we +will remove them from both the reference and study data set. + +```{bash filter at and gc snps, eval=FALSE} +awk 'BEGIN {OFS="\t"} ($5$6 == "GC" || $5$6 == "CG" \ + || $5$6 == "AT" || $5$6 == "TA") {print $2}' \ + $qcdir/$name.bim > \ + $qcdir/$name.ac_gt_snps + +awk 'BEGIN {OFS="\t"} ($5$6 == "GC" || $5$6 == "CG" \ + || $5$6 == "AT" || $5$6 == "TA") {print $2}' \ + $refdir/$refname.bim > \ + $qcdir/$refname.ac_gt_snps + +plink --bfile $refdir/$refname \ + --exclude $qcdir/$refname.ac_gt_snps \ + --make-bed \ + --out $qcdir/$refname.no_ac_gt_snps +mv $qcdir/$refname.no_ac_gt_snps.log $qcdir/plink_log/$refname.no_ac_gt_snps.log + +plink --bfile $qcdir/$name \ + --exclude $qcdir/$name.ac_gt_snps \ + --make-bed \ + --out $qcdir/$name.no_ac_gt_snps +mv $qcdir/$name.no_ac_gt_snps.log $qcdir/plink_log/$name.no_ac_gt_snps.log +``` + + ### Prune study data We will conduct principle component analysis on genetic variants that are pruned for variants in linkage disequlibrium (LD) with an $r^2 >0.2$ in a 50kb @@ -82,17 +112,17 @@ ranges of known high-LD structure. This file was originally provided by `file.path(find.package('plinkQC'),'extdata','high-LD-regions.txt')`. ```{bash prune, eval=FALSE} -plink --bfile $qcdir/$name \ +plink --bfile $qcdir/$name.no_ac_gt_snps \ --exclude range $refdir/$highld \ --indep-pairwise 50 5 0.2 \ - --out $qcdir/$name -mv $qcdir/$name.prune.log $qcdir/plink_log/$name.prune + --out $qcdir/$name.no_ac_gt_snps +mv $qcdir/$name.prune.log $qcdir/plink_log/$name.prune.log -plink --bfile $qcdir/$name \ - --extract $qcdir/$name.prune.in \ +plink --bfile $qcdir/$name.no_ac_gt_snps \ + --extract $qcdir/$name.no_ac_gt_snps.prune.in \ --make-bed \ --out $qcdir/$name.pruned -mv $qcdir/$name.pruned.log $qcdir/plink_log/$name.pruned +mv $qcdir/$name.pruned.log $qcdir/plink_log/$name.pruned.log ``` ### Filter reference data for the same SNP set as in study @@ -103,7 +133,7 @@ plink --bfile $refdir/$refname \ --extract $qcdir/$name.prune.in \ --make-bed \ --out $qcdir/$refname.pruned -mv $qcdir/$refname.pruned.log $qcdir/plink_log/$refname.pruned +mv $qcdir/$refname.pruned.log $qcdir/plink_log/$refname.pruned.log ``` ### Check and correct chromosome mismatch diff --git a/vignettes/Genomes1000.Rmd b/vignettes/Genomes1000.Rmd index 19db9a4..46022f0 100644 --- a/vignettes/Genomes1000.Rmd +++ b/vignettes/Genomes1000.Rmd @@ -64,13 +64,13 @@ corresponds to v1.9, whereas `plink2` corresponds to v2. 1000 Genomes phase III (1000GenomesIII) is available in [PLINK 2 binary format](https://www.cog-genomics.org/plink/2.0/input#pgen) at https://www.cog-genomics.org/plink/2.0/resources#1kg_phase3. In addition, a sample file with information about the individuals' ancestry -is available and shoud be downloaded as in input for `plinkQC::chec_Ancestry()`. +is available and shoud be downloaded as in input for `plinkQC::check_ancestry()`. The following code chunk downloads and decompresses the data. The genome build of these files is the same as the original release of the 1000GenomesIII, namely CGRCh37. -NB: CGRCh38 positions in vcf format can be found [here](http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/supporting/GRCh38_positions/) +NB: CGRCh38 positions in vcf format can be found [here](http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/supporting/GRCh38_positions/). The remainder of this vignette will however look at the data processing required for the 1000GenomesIII available in [PLINK 2 binary format](https://www.cog-genomics.org/plink/2.0/input#pgen). diff --git a/vignettes/plinkQC.Rmd b/vignettes/plinkQC.Rmd index 704e951..a0e59e5 100644 --- a/vignettes/plinkQC.Rmd +++ b/vignettes/plinkQC.Rmd @@ -134,8 +134,7 @@ the `qcdir` will often be the same as the `indir` and this step will not be required. ```{r copy files} -system(paste("cp", file.path(package.dir, 'extdata/data.HapMapIII.eigenvec'), - qcdir)) +file.copy(file.path(package.dir, 'extdata/data.HapMapIII.eigenvec'), qcdir) ``` `perIndividualQC` displays the results of the quality control steps in a