segregatr-package: segregatr: Segregation Analysis for Variant Interpretation

In segregatr: Segregation Analysis for Variant Interpretation

segregatr: Segregation Analysis for Variant Interpretation

Description

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) \Sexpr[results=rd]{tools:::Rd_expr_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) \Sexpr[results=rd]{tools:::Rd_expr_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) \Sexpr[results=rd]{tools:::Rd_expr_doi("10.1093/bioinformatics/btae201")}).

Author(s)

Maintainer: Magnus Dehli Vigeland [e-mail] (ORCID)

Authors:

• Christian Carrizosa (ORCID)

See Also

Useful links:

• https://github.com/magnusdv/segregatr

• Report bugs at https://github.com/magnusdv/segregatr/issues

segregatr documentation built on June 28, 2024, 5:08 p.m.