We have developed UPDhmm
R/Bioconductor package. The package provides a tool method to detect, classify and stablish the location of uniparental disomy events.
You can install the current release version of UPDhmm from Bioconductor with:
if (!require("BiocManager", quietly = TRUE))
install.packages("BiocManager")
BiocManager::install("UPDhmm")
You can install the development version of UPDhmm from GitHub with:
# install.packages("devtools")
devtools::install_github("martasevilla/UPDhmm")
devtools::install_github("martasevilla/UPDhmm")
This is a example which show you how to solve use the package in a trio-vcf file:
library(UPDhmm)
library(VariantAnnotation)
file <- system.file(package = "UPDhmm", "extdata", "test_het_mat.vcf.gz")
vcf <- readVcf(file)
processedVcf <- vcfCheck(
vcf,
proband = "NA19675",
mother = "NA19678",
father = "NA19679"
)
updEvents <- calculateEvents(largecollapsed=processedVcf)