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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: 0.4.0
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 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.pdf

Downloads:

Package source: segregatr_0.4.0.tar.gz
Windows binaries: r-devel: segregatr_0.4.0.zip, r-release: segregatr_0.4.0.zip, r-oldrel: segregatr_0.4.0.zip
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

Linking:

Please use the canonical form https://CRAN.R-project.org/package=segregatr to link to this page.

These binaries (installable software) and packages are in development.
They may not be fully stable and should be used with caution. We make no claims about them.