Chunk #17 — Background — Details of data simulation — 1. Overview of the disease model and ascertainment in the data collection groups

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Construction of the model for the Genetic Analysis Workshop 14 simulated data: genotype-phenotype relationships, gene interaction, linkage, association, disequilibrium, and ascertainment effects for a complex phenotype.

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As may be noted below, KPD is actually a heterogeneous disease in which four loci are involved. These four loci interact epistatically in a complex way to produce three different but overlapping phenotypes, or "latent traits" (Figure 1, Table 1). There are also two "modifying" loci, one which changes one of the phenotypes into another, and one which affects the penetrance of one of the phenotypes.