segregatr: segregatr: Segregation Analysis for Identifying Pathogenic...

segregatrR Documentation

segregatr: Segregation Analysis for Identifying Pathogenic Variants


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), and further popularised by Bayrak-Toydemir et al. (2008). This implementation allows custom penetrance values and liability classes, and includes specialised pedigree visualisations.


Thompson D, Easton DF, Goldgar DE. A full-likelihood method for the evaluation of causality of sequence variants from family data. Am J Hum Genet, 2003. \Sexpr[results=rd]{tools:::Rd_expr_doi("10.1086/378100")}.

Bayrak-Toydemir et al. Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model. Exp Mol Pathol, 2008. \Sexpr[results=rd]{tools:::Rd_expr_doi("10.1016/j.yexmp.2008.03.006")}.

segregatr documentation built on July 9, 2023, 7:24 p.m.