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Bioconductor - UPDhmm (development version)

UPDhmm

This is the development version of UPDhmm; for the stable release version, see UPDhmm.

Detecting Uniparental Disomy through NGS trio data

Bioconductor version: Development (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: 0009-0005-0179-920X , Carlos Ruiz-Arenas [aut] ORCID: 0000-0002-6014-3498

Maintainer: Marta Sevilla <marta.sevilla at upf.edu>

Citation (from within R, enter citation("UPDhmm")): Installation

To install this package, start R (version "4.5") and enter:


if (!require("BiocManager", quietly = TRUE))
    install.packages("BiocManager")

# The following initializes usage of Bioc devel
BiocManager::install(version='devel')

BiocManager::install("UPDhmm")

For older versions of R, please refer to the appropriate Bioconductor release.

Documentation Details See More Package Archives

Follow Installation instructions to use this package in your R session.


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