Bayesian complex segregation analysis

Mixed inheritance models for general pedigrees

Complex Segregation Analysis (CSA), also referred to as a Mixed Inheritance Model (MIM), jointly fits a monogenic (single gene) and a polygenic (standard quantitative genetics) inheritance. Using analytical Maximum Likelihood methods this model is virtually intractable in general pedigrees because both the computation of genotype probabilities as well as the required numerical integration over polygenic effects are infeasible across families. Bayesian/MCMC methods, however, do offer a tractable solution to fit this model.

Segregation analysis for discrete data (threshold models)

An application using segregation analysis for a binary trait was published in Nov. 2005 in Genetics (see the publications section). The segregation analysis software has now been updated to also allow ordered categorical variables. Even when the number of categories in discrete data is fair and the distribution is symmetrical, use of a threshold model is still recommended for segregation analysis.

Segregation analysis software

See the software section for more information on iBay software for segregation analysis.

Mathematics for Genetics and Genomics