forrel (version 1.7.1)

exclusionPower: Power of exclusion

Description

Computes the power (of a single marker, or for a collection of markers) of excluding a claimed relationship, given the true relationship.

Usage

exclusionPower(
  claimPed,
  truePed,
  ids,
  markers = NULL,
  source = "claim",
  disableMutations = NA,
  exactMaxL = Inf,
  nsim = 1000,
  seed = NULL,
  alleles = NULL,
  afreq = NULL,
  knownGenotypes = NULL,
  Xchrom = FALSE,
  plot = FALSE,
  plotMarkers = NULL,
  verbose = TRUE
)

Value

If plot = "plotOnly", the function returns NULL after producing the plot.

Otherwise, the function returns an EPresult object, which is essentially a list with the following entries:

• EPperMarker: A numeric vector containing the exclusion power of each marker. If the known genotypes of a marker are incompatible with the true pedigree, the corresponding entry is NA.

• EPtotal: The total exclusion power, computed as 1 - prod(1 - EPperMarker, na.rm = TRUE).

• expectedMismatch: The expected number of markers giving exclusion, computed as sum(EPperMarker, na.rm = TRUE).

• distribMismatch: The probability distribution of the number of markers giving exclusion. This is given as a numeric vector of length n+1, where n is the number of nonzero elements of EPperMarker. The vector has names 0:n.

• time: The total computation time.

• params: A list containing the (processed) parameters ids, markers and disableMutations.

Arguments

claimPed

A ped object (or a list of such), describing the claimed relationship. If a list, the sets of ID labels must be disjoint, that is, all ID labels must be unique.

truePed

A ped object (or a list of such), describing the true relationship. ID labels must be consistent with claimPed.

ids

Individuals available for genotyping.

markers

A vector indicating the names or indices of markers attached to the source pedigree. If NULL (default), then all markers attached to the source pedigree are used. If alleles or afreq is non-NULL, then this parameter is ignored.

source

Either "claim" (default) or "true", deciding which pedigree is used as source for marker data.

disableMutations

This parameter determines how mutation models are treated. Possible values are as follows:

• NA (the default): Mutations are disabled only for those markers whose known genotypes are compatible with both claimPed and truePed. This is determined by temporarily removing all mutation models and checking which markers have nonzero likelihood in both alternatives.

• TRUE: Mutations are disabled for all markers.

• FALSE: No action is done to disable mutations.

• A vector containing the names or indices of those markers for which mutations should be disabled.

exactMaxL

A positive integer, or Inf (default). Exact EPs are calculated for markers whose number of alleles is less or equal to exactMaxL; remaining markers are handled by simulation.

nsim

A positive integer; the number of simulations used for markers whose number of alleles exceeds exactMaxL.

seed

An integer seed for the random number generator (optional).

alleles, afreq, Xchrom

If these are given, they are used (together with knownGenotypes) to create a marker object on the fly.

knownGenotypes

A list of triplets (a, b, c), indicating that individual a has genotype b/c. Ignored unless alleles or afreq is non-NULL.

plot

Either a logical or the character "plotOnly". If the latter, a plot is drawn, but no further computations are done.

plotMarkers

A vector of marker names or indices whose genotypes are to be included in the plot.

verbose

A logical.

Author

Magnus Dehli Vigeland

Details

This function implements the formula for exclusion power as defined and discussed in (Egeland et al., 2014).

It should be noted that claimPed and truePed may be any (lists of) pedigrees, as long as they both contain the individuals specified by ids. In particular, either alternative may have inbred founders (with the same or different coefficients), but this must be set individually for each.

References

T. Egeland, N. Pinto and M.D. Vigeland, A general approach to power calculation for relationship testing. Forensic Science International: Genetics 9 (2014): 186-190. tools:::Rd_expr_doi("10.1016/j.fsigen.2013.05.001")

Examples

############################################
### A standard case paternity case:
### Compute the power of exclusion when the claimed father is in fact
### unrelated to the child.
############################################

# Claim: 'AF' is the father of 'CH'
claim = nuclearPed(father = "AF", children = "CH")

# Attach two (empty) markers
claim = claim |>
  addMarker(alleles = 1:2) |>
  addMarker(alleles = 1:3)

# Truth: 'AF' and 'CH' are unrelated
true = singletons(c("AF", "CH"))

# EP when both are available for genotyping
exclusionPower(claim, true, ids = c("AF", "CH"))

# EP when the child is typed; homozygous 1/1 at both markers
claim2 = claim |>
  setGenotype(marker = 1:2, id = "CH", geno = "1/1")

exclusionPower(claim2, true, ids = "AF")


############################################
### Two females claim to be mother and daughter, but are in reality sisters.
### We compute the power of various markers to reject the claim.
############################################

ids = c("A", "B")
claim = nuclearPed(father = "NN", mother = "A", children = "B", sex = 2)
true = nuclearPed(children = ids, sex = 2)

# SNP with MAF = 0.1:
PE1 = exclusionPower(claimPed = claim, truePed = true, ids = ids,
                     alleles = 1:2, afreq = c(0.9, 0.1))

stopifnot(round(PE1$EPtotal, 5) == 0.00405)

# Tetra-allelic marker with one major allele:
PE2 = exclusionPower(claimPed = claim, truePed = true, ids = ids,
                     alleles = 1:4, afreq = c(0.7, 0.1, 0.1, 0.1))

stopifnot(round(PE2$EPtotal, 5) == 0.03090)


### How does the power change if the true pedigree is inbred?
trueLOOP = halfSibPed(sex2 = 2) |> addChildren(4, 5, ids = ids)

# SNP with MAF = 0.1:
PE3 = exclusionPower(claimPed = claim, truePed = trueLOOP, ids = ids,
                     alleles = 1:2, afreq = c(0.9, 0.1))

# Power almost doubled compared with PE1
stopifnot(round(PE3$EPtotal, 5) == 0.00765)