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

Description References


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. 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. doi: 10.1016/j.yexmp.2008.03.006.

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