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bioconductor-updhmm

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Detecting Uniparental Disomy through NGS trio data

Installation

To install this package, run one of the following:

Conda
$conda install bioconda::bioconductor-updhmm

Usage Tracking

1.6.0
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Downloads (Last 6 months): 0

Description

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).

About

Summary

Detecting Uniparental Disomy through NGS trio data

Last Updated

Oct 31, 2025 at 13:14

License

MIT + file LICENSE

Total Downloads

37

Supported Platforms

noarch