Abstract
Understanding population genetics is critical to designing and interpreting results for human genetic studies. Much research has been done in this area in the past century, often involving sophisticated mathematical and computational tools. However, there has been a detachment between theoretical developments and real data analyses primarily due to the lack of data for population genetics studies. The landscape has changed completely due to the recent advances in molecular technologies allowing high-throughput and affordable sequencing and genotyping of a large number of samples. For example, the on-going HapMap project can be considered a very large-scale population genetics study where genetic variation throughout the genome in diverse populations is thoroughly studied. This chapter covers basic statistical tests and procedures involved in the analysis of population genetics data, such as the tests of Hardy–Weinberg equilibrium and linkage equilibrium and characterization of population structure.
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Weir, B. (2009). Population Genetics. In: Handbook on Analyzing Human Genetic Data. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69264-5_1
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DOI: https://doi.org/10.1007/978-3-540-69264-5_1
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