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UPDhmm

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

All versions 3.24 (devel), 3.23 (release), 3.22, 3.21, 3.20, 3.19

Detecting Uniparental Disomy through NGS trio data


Bioconductor version: Development (3.24)

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")):

Marta Sevilla, Carlos Ruiz-Arenas. UPDhmm: Detecting Uniparental Disomy through NGS trio data. doi:10.18129/B9.bioc.UPDhmm, R package version 1.9.0, https://bioconductor.org/packages/UPDhmm.

Generated from the package metadata; it may differ from the package's own citation.

Installation

To install this package, start R (version "4.6") and enter:

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

## The following initializes the development version of Bioconductor
BiocManager::install(version = "devel")

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")
Long reads VCF Preprocessing User Guide HTML R Script
VCF Preprocessing User Guide HTML R Script
UPDhmm User Guide: From Detection to Postprocessing HTML R Script
Reference ManualPDF
NEWSText
LICENSEText

Details

biocViews Genetics, HiddenMarkovModel, Software
Version1.9.0
In Bioconductor sinceBioC 3.19 (R-4.4) (2.5 years)
License MIT + file LICENSE
Depends R (>= 4.1.0)
Imports HMM, utils, VariantAnnotation, GenomicRanges, S4Vectors, IRanges, SummarizedExperiment, stats, BiocParallel, GenomeInfoDb
System Requirements
URLhttps://github.com/martasevilla/UPDhmm
Bug Reportshttps://github.com/martasevilla/UPDhmm/issues
See More
Suggests knitr, testthat (>= 2.1.0), BiocStyle, rmarkdown, markdown, karyoploteR, regioneR, dplyr, BiocManager
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Package Archives

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

Source Package UPDhmm_1.9.0.tar.gz
Windows Binary (x86_64) UPDhmm_1.9.0.zip
macOS Binary (big-sur-x86_64) UPDhmm_1.9.0.tgz
macOS Binary (sonoma-arm64) UPDhmm_1.9.0.tgz
Source Repositorygit clone https://git.bioconductor.org/packages/UPDhmm
Source Repository (Developer Access)git clone git@git.bioconductor.org:packages/UPDhmm
Package Short Url https://bioconductor.org/packages/UPDhmm/
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