This function performs crude mutation calling based on BAF. It searches for variants in a child sample that are not present in either parent. The calculation depends on changes in AF between child and parents.
1 2 3 | callTrioDeNovo(baftable, cref1 = "mother", cref2 = "father",
csample = "child", thesaurus = FALSE, foldchange = 1.2, maxref = 0.05,
minAF = 0.15, mincov = 10, exceptcovchr1 = c(), exceptcovchr2 = c())
|
baftable |
data.frame with variants and allelic frequency |
cref1, |
string, code refererring to one of the matched controls, i.e. one of the parents. The function assumes the baftable contains columns such as cref1.thesaurus.BAF, etc as output by GeneticThesaurus software |
cref2 |
string, similar to cref1 |
csample |
string, code referring to the child sample. The function assumes the baftable contains columns such as csample.thesaurus.BAF, etc. as output by GeneticThesaurus software. |
thesaurus |
boolean, set TRUE to use thesaurus adjusted BAF and coverage estimates |
foldchange |
numeric, required fold change in allelic frequency |
maxref |
numeric, maximal allelic frequency allowed in the reference samples |
minAF |
numeric, minimum allelic frequency required in the child sample |
mincov |
numeric, minimum coverage required in the reference samples |
exceptcovchr1 |
vector of chromosome names that should be excluded from the minimum coverage requirement (e.g. set chrY for a female sample) |
exceptcovchr2 |
vector, similar to exceptcovchr1 |
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