segregatr

CRANsegregatrMaRDI QIDQ116804FDOQ116804

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

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

Cited In (1)

• pedsuite

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