Detecting Uniparental Disomy through NGS trio data


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Documentation for package ‘UPDhmm’ version 1.5.1

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addOr Function to transform a large collapsed VCF into a dataframe, incorporating predicted states along with the log-likelihood ratio and p-value.
addRatioDepth Add depth ratios (inside vs outside events) per sample
applyViterbi Apply the hidden Markov model using the Viterbi algorithm.
asDfVcf Function to transform a large collapsed VCF into a dataframe with predicted states, including chromosome, start position, end position and metadata.
blocksVcf Function to simplify contiguous variants with the same state into blocks.
calculateEvents Calculate UPD events in trio VCFs.
collapseEvents Collapse events per sample and chromosome
hmm HMM data for predicting UPD events in trio genomic data
identifyRecurrentRegions Identify recurrent genomic regions across samples
markRecurrentRegions Annotate regions as recurrent or non-recurrent
processChromosome Process a single chromosome for UPD detection
vcfCheck Check quality parameters (optional) and change IDs.