UPDhmm

Detecting Uniparental Disomy through NGS trio data

Bioconductor version: 3.23 · Package version: 1.8.0

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).

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

BiocManager::install("UPDhmm")