\name{callDenovoSegments} \alias{callDenovoSegments} \title{ Posterior calling for segmented data. } \description{ This function provides a convenient wrapper for the segmentation and posterior calling steps. } \usage{ callDenovoSegments(path = "", pedigreeData, ext = "", featureData, cdfname, chromosome = 1:22, segmentParents, verbose = FALSE, ...) } %- maybe also 'usage' for other objects documented here. \arguments{ \item{path}{ \code{character} string indicating path to BeadStudio files. } \item{pedigreeData}{ Object of class \code{Pedigree}. } \item{ext}{ \code{character}: filename extension } \item{featureData}{ An object of class \code{AnnotatedDataFrame}. Variable labels 'chromosome', 'position', and 'isSnp' are required.} \item{cdfname}{ Name of the package for annotating the chromosome and physical position. Ignored if \code{featureData} is specified. } \item{chromosome}{ \code{integer} indicating which autosomal chromosomes to process } \item{segmentParents}{ \code{Logical}: whether to segment the parental log R ratios using circular binary segmentation } \item{verbose}{ \code{Logical}: whether to display verbose output indicating progress. } \item{\dots}{ Additional arguments can be specified for the \code{segment} function in the package \code{DNAcopy} } } \details{ A wrapper for the segmentation and posterior calling steps. Circular binary segmentation is performed on the minimum distance and the offspring log R ratios. The minimum distance (the signed minimum of the absolute difference of the offspring and parental log2 R ratios) should have mean zero in regions of inherited CNV and normal diploid genomes. Hence, the segmentation algorithm should smooth over inherited CNV in which the offspring has the same copy number as the parent as well as normal diploid regions. Therefore, the posterior call for a segment that contains both inherited CNV and normal diploid regions will depend on the relative size of these regions. For example, if most of the segment is diploid the posterior call would be '333' (see State Symbols below for details regarding the state symbols). Conversely, if most of the region contains a deletion transmitted from the mother, the state call will be '322'. Of primary interest are regions for which the offspring copy number differs from the parental copy numbers. Note that for such regions, the CNV in the offspring may be Mendelian or non-Mendelian. The likelihood for the called state and the likelihood for the normal state are named 'lik.state' and 'lik.norm', respectively. The ratio can provide a useful rank whereby large values indicate strong evidence for the called state. State Symbols: The MinimumDistance states can be easily remembered as the latent copy number offset by 1 for the father, mother, and offspring, respectively. For example, a region of the genome for which all individuals in the trio are diploid would have state '333'. By contrast, a region for which the father is diploid and the mother and offspring are hemizygous would have the state symbol '322'. } \value{ A object of class \code{RangedDataCBS} with the predicted trio copy number sates. Only states for which the offspring copy number differs from the parental copy numbers are reliable. In particular, the normal state (state '333') may contain both normal and inherited CNV as the minimum distance for both states is near zero. } \author{ R. Scharpf } \seealso{ \code{\link{state}} for accessing the state symbols (posterior calls) for the genomic ranges. } \examples{ library(oligoClasses) foreach::registerDoSEQ() path <- system.file("extdata", package="MinimumDistance") fnames <- list.files(path, pattern=".txt") ped <- Pedigree(fatherIds=fnames[1], motherIds=fnames[2], offspringIds=fnames[3]) map.segs <- callDenovoSegments(path=path, ext="", pedigreeData=ped, cdfname="human610quadv1b", chromosome=1, segmentParents=FALSE) } \keyword{htest} \keyword{models} \keyword{robust} \keyword{smooth} \keyword{classif}