GenotypeData-class {GWASTools} | R Documentation

## Class GenotypeData

### Description

The GenotypeData class is a container for storing genotype data from a genome-wide association study together with the metadata associated with the subjects and SNPs involved in the study.

### Details

The GenotypeData class consists of three slots: data, snp annotation, and scan annotation. There may be multiple scans associated with a subject (e.g. duplicate scans for quality control), hence the use of "scan" as one dimension of the data. Snp and scan annotation are optional, but if included in the GenotypeData object, their unique integer ids (snpID and scanID) are checked against the ids stored in the data slot to ensure consistency.

### Constructor

  `GenotypeData(data, snpAnnot=NULL, scanAnnot=NULL)`:

  `data` must be an `NcdfGenotypeReader`, `GdsGenotypeReader`, or `MatrixGenotypeReader` object.

  `snpAnnot`, if not `NULL`, must be a `SnpAnnotationDataFrame` or `SnpAnnotationSQLite` object.

  `scanAnnot`, if not `NULL`, must be a `ScanAnnotationDataFrame` or `ScanAnnotationSQLite` object.

  The `GenotypeData` constructor creates and returns a GenotypeData instance, ensuring that data, snpAnnot, and scanAnnot are internally consistent.

### Accessors

In the code snippets below, `object` is a GenotypeData object.

  `nsnp(object)`: The number of SNPs in the data.

  `nscan(object)`: The number of scans in the data.

  `getSnpID(object, index)`: A unique integer vector of snp IDs. The optional `index` is a logical or integer vector specifying elements to extract.

  `getChromosome(object, index, char=FALSE)`: A vector of chromosomes. The optional `index` is a logical or integer vector specifying elements to extract. If `char=FALSE` (default), returns an integer vector. If `char=TRUE`, returns a character vector with elements in (1:22,X,XY,Y,M,U).

  `getPosition(object, index)`: An integer vector of base pair positions. The optional `index` is a logical or integer vector specifying elements to extract.

  `getAlleleA(object, index)`: A character vector of A alleles. The optional `index` is a logical or integer vector specifying elements to extract.

  `getAlleleB(object, index)`: A character vector of B alleles. The optional `index` is a logical or integer vector specifying elements to extract.

  `getScanID(object, index)`: A unique integer vector of scan IDs. The optional `index` is a logical or integer vector specifying elements to extract.

  `getSex(object, index)`: A character vector of sex, with values 'M' or 'F'. The optional `index` is a logical or integer vector specifying elements to extract.

  `hasSex(object)`: Returns `TRUE` if the column 'sex' is present in `object`.

  `getGenotype(object, snp=c(1,-1), scan=c(1,-1), char=FALSE, sort=TRUE, drop=TRUE, use.names=FALSE, ...)`: Extracts genotype values (number of A alleles). `snp` and `scan` indicate which elements to return along the snp and scan dimensions. They must be integer vectors of the form (start, count), where start is the index of the first data element to read and count is the number of elements to read. A value of '-1' for count indicates that the entire dimension should be read. If `drop=TRUE`, the result is coerced to the lowest possible dimension. If `use.names=TRUE`, names of the resulting vector or matrix are set to the SNP and scan IDs. Missing values are represented as `NA`. If `char=TRUE`, genotypes are returned as characters of the form "A/B". If `sort=TRUE`, alleles are lexographically sorted ("G/T" instead of "T/G").

  `getGenotypeSelection(object, snp=NULL, scan=NULL, snpID=NULL, scanID=NULL, char=FALSE, sort=TRUE, drop=TRUE, use.names=TRUE, ...)`: May be used only if the data slot contains a `GdsGenotypeReader` or `MatrixGenotypeReader` object. Extracts genotype values (number of A alleles). `snp` and `scan` may be integer or logical vectors indicating which elements to return along the snp and scan dimensions. `snpID` and `scanID` allow section by values of snpID and scanID. Unlike `getGenotype`, the values requested need not be in contiguous blocks. Other arguments are identical to `getGenotype`.

  `getSnpVariable(object, varname, index)`: Returns the snp annotation variable `varname`. The optional `index` is a logical or integer vector specifying elements to extract.

  `getSnpVariableNames(object)`: Returns a character vector with the names of the columns in the snp annotation.

  `hasSnpVariable(object, varname)`: Returns `TRUE` if the variable `varname` is present in the snp annotation.

  `getScanVariable(object, varname, index)`: Returns the scan annotation variable `varname`. The optional `index` is a logical or integer vector specifying elements to extract.

  `getScanVariableNames(object)`: Returns a character vector with the names of the columns in the scan annotation.

  `hasScanVariable(object, varname)`: Returns `TRUE` if the variable `varname` is present in the scan annotation.

  `getVariable(object, varname, drop=TRUE, ...)`: Extracts the contents of the variable `varname` from the data. If `drop=TRUE`, the result is coerced to the lowest possible dimension. Missing values are represented as `NA`. If the variable is not found, returns `NULL`.

  `hasVariable(object, varname)`: Returns `TRUE` if the data contains contains `varname`, `FALSE` if not.

  `getSnpAnnotation(object)`: Returns the snp annotation.

  `hasSnpAnnotation(object)`: Returns `TRUE` if the snp annotation slot is not `NULL`.

  `getScanAnnotation(object)`: Returns the scan annotation.

  `hasScanAnnotation(object)`: Returns `TRUE` if the scan annotation slot is not `NULL`.

  `open(object)`: Opens a connection to the data.

  `close(object)`: Closes the data connection.

  `autosomeCode(object)`: Returns the integer codes for the autosomes.

  `XchromCode(object)`: Returns the integer code for the X chromosome.

  `XYchromCode(object)`: Returns the integer code for the pseudoautosomal region.

  `YchromCode(object)`: Returns the integer code for the Y chromosome.

  `MchromCode(object)`: Returns the integer code for mitochondrial SNPs.

### Author(s)

Stephanie Gogarten

### See Also

`SnpAnnotationDataFrame`, `SnpAnnotationSQLite`, `ScanAnnotationDataFrame`, `ScanAnnotationSQLite`, `GdsGenotypeReader`, `NcdfGenotypeReader`, `MatrixGenotypeReader`, `IntensityData`

### Examples

    library(GWASdata)
    file <- system.file("extdata", "illumina_geno.gds", package="GWASdata")
    gds <- GdsGenotypeReader(file)

    # object without annotation
    genoData <- GenotypeData(gds)

    # object with annotation
    data(illuminaSnpADF)
    data(illuminaScanADF)
    # need to rebuild old SNP annotation object to get allele methods
    snpAnnot <- SnpAnnotationDataFrame(pData(illuminaSnpADF))
    genoData <- GenotypeData(gds, snpAnnot=snpAnnot, scanAnnot=illuminaScanADF)

    # dimensions
    nsnp(genoData)
    nscan(genoData)

    # get snpID and chromosome
    snpID <- getSnpID(genoData)
    chrom <- getChromosome(genoData)

    # get positions only for chromosome 22
    pos22 <- getPosition(genoData, index=(chrom == 22))

    # get other annotations
    if (hasSex(genoData)) sex <- getSex(genoData)
    plate <- getScanVariable(genoData, "plate")
    rsID <- getSnpVariable(genoData, "rsID")

    # get all snps for first scan
    geno <- getGenotype(genoData, snp=c(1,-1), scan=c(1,1))

    # starting at snp 100, get 10 snps for the first 5 scans
    geno <- getGenotype(genoData, snp=c(100,10), scan=c(1,5))
    geno

    # return genotypes as "A/B" rather than number of A alleles
    geno <- getGenotype(genoData, snp=c(100,10), scan=c(1,5), char=TRUE)
    geno

    close(genoData)

    #--------------------------------------
    # An example using a non-human organism
    #--------------------------------------
    # Chicken has 38 autosomes, Z, and W.  Male is ZZ, female is ZW.
    # Define sex chromosomes as X=Z and Y=W.
    gdsfile <- tempfile()
    simulateGenotypeMatrix(n.snps=10, n.chromosomes=40, n.samples=5,
                           filename=gdsfile, file.type="gds")
    gds <- GdsGenotypeReader(gdsfile, autosomeCode=1:38L,
                             XchromCode=39L, YchromCode=40L,
                             XYchromCode=41L, MchromCode=42L)
    table(getChromosome(gds))
    table(getChromosome(gds, char=TRUE))

    # SNP annotation
    snpdf <- data.frame(snpID=getSnpID(gds),
                        chromosome=getChromosome(gds),
                        position=getPosition(gds))
    snpAnnot <- SnpAnnotationDataFrame(snpdf, autosomeCode=1:38L,
                             XchromCode=39L, YchromCode=40L,
                             XYchromCode=41L, MchromCode=42L)
    varMetadata(snpAnnot)[,"labelDescription"] <-
      c("unique integer ID",
        "chromosome coded as 1:38=autosomes, 39=Z, 40=W",
        "base position")

    # reverse sex coding to get proper counting of sex chromosome SNPs
    scandf <- data.frame(scanID=1:5, sex=c("M","M","F","F","F"),
                         stringsAsFactors=FALSE)
    scanAnnot <- ScanAnnotationDataFrame(scandf)
    varMetadata(scanAnnot)[,"labelDescription"] <-
      c("unique integer ID",
        "sex coded as M=female and F=male")

    genoData <- GenotypeData(gds, snpAnnot=snpAnnot, scanAnnot=scanAnnot)
    afreq <- alleleFrequency(genoData)
    # frequency of Z chromosome in females ("M") and males ("F")
    afreq[snpAnnot$chromosome == 39, c("M","F")]
    # frequency of W chromosome in females ("M") and males ("F")
    afreq[snpAnnot$chromosome == 40, c("M","F")]

    close(genoData)
    unlink(gdsfile)

[Package GWASTools version 1.38.0 Index]