UPDhmm
This is the released version of UPDhmm; for the devel version, see UPDhmm.
Detecting Uniparental Disomy through NGS trio data
Bioconductor version: Release (3.22)
Uniparental disomy (UPD) is a genetic condition where an individual inherits both copies of a chromosome or part of it from one parent, rather than one copy from each parent. This package contains a HMM for detecting UPDs through HTS (High Throughput Sequencing) data from trio assays. By analyzing the genotypes in the trio, the model infers a hidden state (normal, father isodisomy, mother isodisomy, father heterodisomy and mother heterodisomy).
Author: Marta Sevilla [aut, cre] ORCID iD ORCID: 0009-0005-0179-920X , Carlos Ruiz-Arenas [aut] ORCID iD ORCID: 0000-0002-6014-3498
Maintainer: Marta Sevilla <marta.sevilla at upf.edu>
citation("UPDhmm")):
Installation
To install this package, start R (version "4.5") and enter:
if (!require("BiocManager", quietly = TRUE))
install.packages("BiocManager")
BiocManager::install("UPDhmm")
For older versions of R, please refer to the appropriate Bioconductor release.
Documentation
To view documentation for the version of this package installed in your system, start R and enter:
browseVignettes("UPDhmm")
Details
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Follow Installation instructions to use this package in your R session.