alternateAlleleDetection {SeqVarTools} | R Documentation

## alternateAlleleDetection

### Description

Calculate rates of detecting minor alleles given a “gold standard” dataset

### Usage

    ## S4 method for signature 'SeqVarData,SeqVarData'
    alternateAlleleDetection(gdsobj, gdsobj2,
        match.samples.on=c("subject.id", "subject.id"), verbose=TRUE)

### Arguments

`gdsobj` | A `SeqVarData` object with VCF data.
`gdsobj2` | A `SeqVarData` object with VCF data to be used as the “gold standard”.
`match.samples.on` | A length-2 character vector indicating the column to be used for matching in each dataset's `sampleData` annotation
`verbose` | A logical indicating whether to print progress messages.

### Details

Calculates the accuracy of detecting alternate alleles in one dataset (`gdsobj`) given a “gold standard” dataset (`gdsobj2`). Samples are matched using the `match.samples.on` argument. The first element of `match.samples.on` indicates the column to be used as the subject identifier for the first dataset, and the second element is the column to be used for the second dataset. Variants are matched on position and alleles using bi-allelic SNVs only. Genotype dosages are recoded to count the same allele if the reference allele in one dataset is the alternate allele in the other dataset. If a variant in one dataset matches to multiple variants in the second dataset, then only the first match will be used. If a variant is missing in either dataset for a given sample pair, that sample pair is ignored for that variant. To exclude certain variants or samples from the calculate, use `seqSetFilter` to set appropriate filters on each gds object.

This test is positive if an alternate allele was been detected. Results are returned on an allele level, such that:

`TP`, `TN`, `FP`, and `FN` are calculated as follows:

|  |  | genoData2 |
|  | aa | Ra | RR
| aa | 2TP | 1TP + 1FP | 2FP
genoData1 | Ra | 1TP + 1FN | 1TN + 1TP | 1TN + 1FP
| RR | 2FN | 1FN + 1TN | 2TN

where “R” indicates a reference allele and “a” indicates an alternate allele.

### Value

A data frame with the following columns:

`variant.id.1` | variant id from the first dataset
`variant.id.2` | matched variant id from the second dataset
`n.samples` | the number of samples with non-missing data for this variant
`true.pos` | the number of alleles that are true positives for this variant
`true.neg` | the number of alleles that are true negatives for this variant
`false.pos` | the number of alleles that are false positives for this variant
`false.neg` | the number of alleles that are false negatives for this variant

### Author(s)

Adrienne Stilp

### See Also

`SeqVarGDSClass`

### Examples

    ## Not run:
    gds1 <- seqOpen(gdsfile.1) # dataset to test, e.g. sequencing
    sample1 <- data.frame(subject.id=c("a", "b", "c"), sample.id=c("A", "B", "C"), stringsAsFactors=F)
    seqData1 <- SeqVarData(gds1, sampleData=sample1)

    gds2 <- seqOpen(gdsfile.2) # gold standard dataset, e.g. array genotyping
    sample2 <- data.frame(subject.id=c("b", "c", "d"), sample.id=c("B", "C", "D"), stringsAsFactors=F)
    seqData2 <- SeqVarData(gds2, sampleData=sample2)

    res <- alleleDetectionAccuracy(seqData1, seqData2)

    ## End(Not run)

[Package SeqVarTools version 1.30.0 Index]