Description Usage Arguments Details Value Author(s) References Examples
Estimate the number of copies a mutation is found in, based on which allele value maximizes the binomial likelihood after correcting for normal contamination and seqError.
1 | mleAF(x, m, totalCopy, maxCopy=totalCopy, seqError = 0, normCont = 0)
|
x |
vector. the number of reads/fragments containing the variant |
m |
vector. the number of reads/fragments covering the location with the variant (the coverage) |
totalCopy |
The total number of copies (maternal and paternal combined), can be vector with length equal to length(x) |
maxCopy |
The maximum number of copies of either maternal or paternal alleles, can be vector with length equal to length(x) |
seqError |
The probability of sequencing error per base, can be vector with length equal to length(x) |
normCont |
Percentage of normal contamination, can be vector with length equal to length(x) |
maxCopy and totalCopy are used to determine the possible allele frequencies in a pure tumor cell, given by 1:maxCopy/totalCopy. The default of maxCopy=totalCopy ensures that all theoretically possible alleles are considered given the lack of further information, but in general will not be correct. For example, if the region has allelic copy 2/3, then there are only three possible allele frequencies rather than five.
List with following values:
perLocationProb |
matrix of dimension (number of locations) x (number of possible allele frequencies), with each row corresponding to a given location and each column giving the probability of observing the data for that location for each of the possible allele frequencies |
assignments |
data.frame of dimension (number of locations) x 3, with columns ncopies=estimate of number of copies mutation is found in, based on which maximizes the likelihood, totalCopy=totalCopy given by user, AF=estimate of true allele frequency given by ncopies/totalCopy |
alleleSet |
Only returned if the parameters totalCopy, maxCopy, seqError, and normCont are of length=1. A data.frame with rows equal to number of possible alleles and three columns, tumorAF=the allele frequency in the pure tumor, AF= the corresponding allele frequency after adjusting for normal contamination and sequencing error, frequency = number of locations with that allele frequency. |
Elizabeth Purdom
Greenman, C D et al. 2012. “Estimation of rearrangement phylogeny for cancer genomes." Genome Research 22(2):346-361.
1 2 3 4 5 6 7 8 9 | #example of CNLOH
m<-c(24,41,40,15)
x<-c(13,21,17,12)
nc<-c(0.27,0.39,0.49,0.22)
mleAF(x=x,m=m,totalCopy=2,maxCopy=2,normCont=nc)
mleAF(x=x,m=m,totalCopy=c(2,3,2,3),maxCopy=2,normCont=nc)
#note the difference in output if instead all data is from
#same sample (shares normal Contamination estimate)
mleAF(x=x,m=m,totalCopy=2,maxCopy=2,normCont=nc[1])
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