segregatr

MaRDI QIDQ116804CRANFDO

Authors Magnus Dehli Vigeland, Christian Carrizosa

Last update 26 August 2025

Copyright license GNU General Public License, version 3.0

Software version identifier 0.2.0, 0.3.0, PACKAGES.rds, 0.4.0, 0.5.0

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>. This implementation supports custom penetrance values and liability classes, and allows visualisations and robustness analysis as presented in Ratajska et al. (2023) <doi:10.1002/mgg3.2107>. See also the online app 'shinyseg', <https://chrcarrizosa.shinyapps.io/shinyseg>, which offers interactive segregation analysis with many additional features (Carrizosa et al. (2024) <doi:10.1093/bioinformatics/btae201>).

Cites work

• A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data
• shinyseg: a web application for flexible cosegregation and sensitivity analysis
• The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report

Cited in

(1)

• pedsuite

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