segregatr

MaRDI QIDQ116804CRANFDO

Authors 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

Description

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.

Cites work

• A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data
• Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model

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