segregatr: Segregation Analysis for Variant Interpretation

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', <>, which offers interactive segregation analysis with many additional features (Carrizosa et al. (2024) <doi:10.1093/bioinformatics/btae201>).

Version: 0.4.0
Depends: pedtools (≥ 2.2.0), R (≥ 4.1.0)
Imports: pedprobr
Suggests: testthat
Published: 2024-06-28
DOI: 10.32614/CRAN.package.segregatr
Author: Magnus Dehli Vigeland ORCID iD [aut, cre], Christian Carrizosa ORCID iD [aut]
Maintainer: Magnus Dehli Vigeland <m.d.vigeland at>
License: GPL-3
NeedsCompilation: no
Language: en-GB
Citation: segregatr citation info
Materials: README NEWS
CRAN checks: segregatr results


Reference manual: segregatr.pdf


Package source: segregatr_0.4.0.tar.gz
Windows binaries: r-devel:, r-release:, r-oldrel:
macOS binaries: r-release (arm64): segregatr_0.4.0.tgz, r-oldrel (arm64): segregatr_0.4.0.tgz, r-release (x86_64): segregatr_0.4.0.tgz, r-oldrel (x86_64): segregatr_0.4.0.tgz
Old sources: segregatr archive

Reverse dependencies:

Reverse imports: pedsuite


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