Registration and Abstract Submission Open for
GBCC2025: Joint Galaxy/Bioconductor Conference
Early registration discount pricing ends March 31!

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 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 (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

Reference Manual PDF
NEWS Text
LICENSE Text

Details

biocViews Genetics, HiddenMarkovModel, Software
Version 1.5.0
In Bioconductor since BioC 3.19 (R-4.4) (1 year)
License MIT + file LICENSE
Depends R (>= 4.3.0)
Imports HMM, utils, VariantAnnotation, GenomicRanges, S4Vectors, IRanges, stats
System Requirements
URL https://github.com/martasevilla/UPDhmm
Bug Reports https://github.com/martasevilla/UPDhmm/issues
See More
Suggests knitr, testthat (>= 2.1.0), BiocStyle, rmarkdown, markdown, karyoploteR, regioneR, dplyr
Linking To
Enhances
Depends On Me
Imports Me
Suggests Me
Links To Me
Build Report Build Report

Package Archives

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

Source Package UPDhmm_1.5.0.tar.gz
Windows Binary (x86_64) UPDhmm_1.5.0.zip
macOS Binary (x86_64)
macOS Binary (arm64)
Source Repository git clone https://git.bioconductor.org/packages/UPDhmm
Source Repository (Developer Access) git clone git@git.bioconductor.org:packages/UPDhmm
Bioc Package Browser https://code.bioconductor.org/browse/UPDhmm/
Package Short Url https://bioconductor.org/packages/UPDhmm/
Package Downloads Report Download Stats