Skip to main content

Table 1 Details of 5 commonly used benchmark models of 2-SNP epistatic interactions

From: epiACO - a method for identifying epistasis based on ant Colony optimization algorithm

Models

MAF(a)

MAF(b)

Prevalence

Penetrance function

Genotypes (SNP A)

Genotypes (SNP B)

BB

Bb

bb

ME Models

Model 1

0.300

0.200

0.100

AA

0.087

0.087

0.087

Aa

0.087

0.146

0.190

aa

0.087

0.190

0.247

Model 2

0.400

0.400

0.050

AA

0.042

0.042

0.042

Aa

0.240

0.270

0.420

aa

0.240

0.440

0.090

NME Models

Model 3

0.500

0.500

0.300

AA

0.470

0.230

0.270

Aa

0.240

0.270

0.420

aa

0.240

0.440

0.090

Model 4

0.400

0.400

0.171

AA

0.068

0.299

0.017

Aa

0.289

0.044

0.285

aa

0.048

0.262

0.174

Model 5

0.500

0.500

0.010

AA

0.000

0.000

0.100

Aa

0.000

0.050

0.000

aa

0.100

0.000

0.000

  1. Prevalence is the proportion of samples that occur a disease. Penetrance is the probability of the occurrence of a disease given a particular genotype.MAF(a) is the minor allele frequency of a. AA, Aa, and aa are homozygous common genotype, heterozygous genotype, and homozygous minor genotype