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] (<>), Christian Carrizosa [aut] (<>)
MaintainerMagnus Dehli Vigeland <>
Package repositoryView on CRAN
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segregatr documentation built on July 9, 2023, 7:24 p.m.