segregatr
From MaRDI portal
Software:116804
Segregation Analysis for Variant Interpretation
Magnus Dehli Vigeland, Christian Carrizosa
Last update: 26 June 2023
Copyright license: GNU General Public License, version 3.0
Software version identifier: 0.2.0, 0.3.0
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.
