Estimating Allele Frequencies

Abstract

Methods of estimating allele frequencies from data on unrelated and related individuals are described in this chapter. For samples of unrelated individuals with simple codominant markers, the natural estimators of allele frequencies can be used. For genetic data on related individuals, maximum likelihood estimation (MLE) can be applied to compute allele frequencies. Factors that influence allele frequencies in populations are also explained.

Keywords: ABO blood group; Allele; Disease research; Expectation-maximization algorithm; Families; Founder; Genetic drift; Genotype; Hardy–Weinberg equilibrium; Log-likelihood; Maximum likelihood estimation; Migration; Mutation; Natural estimator; Natural selection; Nonfounder; Nonrandom mating; Pedigree; Phenotype; Population genetics; Related individuals; Relatives; Unrelated individuals.