callTrioDeNovo: Call sites de novo mutations from family trio data

Description Usage Arguments

Description

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.

Usage

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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())

Arguments

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


tkonopka/RGeneticThesaurus documentation built on May 31, 2019, 3:44 p.m.