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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>).
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Package details |
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| Author | Magnus Dehli Vigeland [aut, cre] (<https://orcid.org/0000-0002-9134-4962>), Christian Carrizosa [aut] (<https://orcid.org/0000-0002-3919-0011>) |
| Maintainer | Magnus Dehli Vigeland <m.d.vigeland@medisin.uio.no> |
| License | GPL-3 |
| Version | 0.4.0 |
| URL | https://github.com/magnusdv/segregatr |
| Package repository | View on CRAN |
| Installation |
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