segregatr: Segregation Analysis for Variant Interpretation

An implementation of the full-likelihood Bayes factor (FLB) for evaluating segregation evidence in clinical medical genetics. The method was introduced by Thompson et al. (2003) <doi:10.1086/378100>, and further popularised by Bayrak-Toydemir et al. (2008) <doi:10.1016/j.yexmp.2008.03.006>. This implementation allows custom penetrance values and liability classes, and includes specialised pedigree visualisations.

Getting started

Package details

AuthorMagnus Dehli Vigeland [aut, cre] (<https://orcid.org/0000-0002-9134-4962>)
MaintainerMagnus Dehli Vigeland <m.d.vigeland@medisin.uio.no>
LicenseGPL-3
Version0.2.0
URL https://github.com/magnusdv/segregatr
Package repositoryView on CRAN
Installation Install the latest version of this package by entering the following in R:
install.packages("segregatr")

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segregatr documentation built on April 15, 2021, 9:11 a.m.