bioconductor-updhmm
Detecting Uniparental Disomy through NGS trio data
Detecting Uniparental Disomy through NGS trio data
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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).
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