segregatr (Q116804)
From MaRDI portal
Segregation Analysis for Variant Interpretation
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | segregatr |
Segregation Analysis for Variant Interpretation |
Statements
26 June 2023
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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>, and further popularised by Bayrak-Toydemir et al. (2008) <doi:10.1016/j.yexmp.2008.03.006>. This implementation allows custom penetrance values and liability classes, and includes specialised pedigree visualisations.
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