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', <https://chrcarrizosa.shinyapps.io/shinyseg>, which offers interactive segregation analysis with many additional features (Carrizosa et al. (2024) <doi:10.1093/bioinformatics/btae201>).
| Version: | 0.5.0 |
| Depends: | pedtools (≥ 2.2.0), R (≥ 4.1.0) |
| Imports: | pedprobr |
| Suggests: | testthat |
| Published: | 2025-08-26 |
| DOI: | 10.32614/CRAN.package.segregatr |
| Author: | Magnus Dehli Vigeland
 [aut, cre],
Christian Carrizosa
[aut] |
| Maintainer: | Magnus Dehli Vigeland <m.d.vigeland at medisin.uio.no> |
| BugReports: | https://github.com/magnusdv/segregatr/issues |
| License: | GPL-3 |
| URL: | https://github.com/magnusdv/segregatr |
| NeedsCompilation: | no |
| Language: | en-GB |
| Citation: | segregatr citation info |
| Materials: | README, NEWS |
| CRAN checks: | segregatr results |
Documentation:
| Reference manual: | segregatr.html , segregatr.pdf |
Downloads:
| Package source: | segregatr_0.5.0.tar.gz |
| Windows binaries: | r-devel: segregatr_0.5.0.zip, r-release: segregatr_0.5.0.zip, r-oldrel: segregatr_0.5.0.zip |
| macOS binaries: | r-release (arm64): segregatr_0.5.0.tgz, r-oldrel (arm64): segregatr_0.5.0.tgz, r-release (x86_64): segregatr_0.5.0.tgz, r-oldrel (x86_64): segregatr_0.5.0.tgz |
| Old sources: | segregatr archive |
Reverse dependencies:
| Reverse imports: | pedsuite |
Linking:
Please use the canonical form https://CRAN.R-project.org/package=segregatr to link to this page.