Some Basic Concepts from Population Genetics
The study of allele frequencies and how they vary over time and over geographic regions has led to many discoveries concerning evolutionary history, migration, gene flow, and the correlation between allele frequencies and disease rates across populations. This chapter covers only a few concepts from population genetics, emphasizing those most relevant to gene mapping: allele frequency estimation, population substructure, Hardy-Weinberg Equilibrium (HWE) and Disequilibrium (HWD), which are frequently used in the analysis of genetic data. Other concepts, e.g., Linkage Disequilibrium and Linkage Equilibrium, will be introduced in later chapters as the need arises.
KeywordsAllele Frequency Random Mating Population Substructure Estimate Allele Frequency Pure Breed
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