segregatr

Segregation Analysis for Variant Interpretation

CRAN Package

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).


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