Are rare variants responsible for susceptibility to complex diseases?
“Customary in theoretical work relating to complex diseases, the allele frequencies ... are treated as parameters of the model”
New here: “resulting from an evolutionary process including selection, mutation, and genetic drift ... to learn about the underlying allele frequencies”
=L Multiplicative effects across loci
K = .0004 popul. frequency of the phenotype
Ls = 75 Sibling risk ratio
d = .0005 additive penetrance within gene