segregatr: segregatr: Segregation Analysis for Identifying Pathogenic...
In segregatr: Segregation Analysis for Variant Interpretation
segregatr R Documentation
segregatr: Segregation Analysis for Identifying Pathogenic Variants
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), and further popularised by Bayrak-Toydemir et al.
(2008). This implementation allows custom penetrance values and liability
classes, and includes specialised pedigree visualisations.
References
Thompson D, Easton DF, Goldgar DE. A full-likelihood method for
the evaluation of causality of sequence variants from family data. Am J
Hum Genet, 2003. \Sexpr[results=rd]{tools:::Rd_expr_doi("10.1086/378100")}.
Bayrak-Toydemir et al. Likelihood ratios to assess genetic evidence for
clinical significance of uncertain variants: Hereditary hemorrhagic
telangiectasia as a model. Exp Mol Pathol, 2008.
\Sexpr[results=rd]{tools:::Rd_expr_doi("10.1016/j.yexmp.2008.03.006")}.
segregatr documentation built on July 9, 2023, 7:24 p.m.
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| segregatr | R Documentation |
segregatr: Segregation Analysis for Identifying Pathogenic Variants
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), and further popularised by Bayrak-Toydemir et al. (2008). This implementation allows custom penetrance values and liability classes, and includes specialised pedigree visualisations.
References
Thompson D, Easton DF, Goldgar DE. A full-likelihood method for the evaluation of causality of sequence variants from family data. Am J Hum Genet, 2003. \Sexpr[results=rd]{tools:::Rd_expr_doi("10.1086/378100")}.
Bayrak-Toydemir et al. Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model. Exp Mol Pathol, 2008. \Sexpr[results=rd]{tools:::Rd_expr_doi("10.1016/j.yexmp.2008.03.006")}.
R Package Documentation
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We want your feedback!
Note that we can't provide technical support on individual packages. You should contact the package authors for that.
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