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Table 1 Genetic model parameters

From: 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

  Major loci Disease allele
frequency
Inheritance at
loci epistatic models
Modifying genes/penetrance
Phenotype 1 D1
D2
0.015
0.15
Dominant-Dominant Penetrance of genotype is 0.6
Phenotype 2 D2
D3
0.15
0.2
D2-D3
Recessive-Dominant
If D5 has allele 1, Phenotype 2 will be converted into.
Phenotype 1 with a 0.7 probability
Gene frequency allele 1 at D5 = 0.25.
  D4 0.3 D3-D4
Dominant-Recessive
If D6 has allele 1, penetrance is 0.3, otherwise, penetrance is 0.6.
Allele 1 frequency at D6 = 0.08
Phenotype 3 D1
D4
0.15
0.3
D1-D4
Dominant-Recessive
Penetrance of genotype = 1.0
  D2
D3
0.15
0.2
D2-D3
Dominant-Recessive
Penetrance of genotype = 0.4