Hellenthal, G; (2019) Population structure, demography and recent admixture. In: Balding, David and Moltke, Ida and Marioni, John, (eds.) Handbook of Statistical Genomics. (pp. 247-274). Wiley

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Abstract

The increasing availability of large‐scale genetic variation data sampled from world‐wide geographic areas, coupled with advances in the statistical methodology to analyse these data, is showcasing the power of DNA as a major tool to gain insights into the history of humans and other organisms. This chapter describes the concepts behind some widely used methods in the field of population genetics applied to whole‐genome autosomal data. In particular, the chapter focuses on techniques that analyse genetic data in order to learn about sub‐structure among sampled individuals and the dynamics of population size changes and intermixing among genetically different populations. While this is by no means an exhaustive look at the many interesting methods in the field, it provides an overview of some of the demographic signals inherent in genetic data and the challenges in extracting this information. We describe these methods as if they will be applied to data from humans, though note that the concepts here extend to other diploid organisms that experience homologous recombination (with potentially straightforward extensions to organisms of other ploidy as well). In general this chapter illustrates the power of DNA as an important data resource that, when interpreted in the context of knowledge from other data sources (e.g. archaeology, anthropology, linguistics), can resolve existing controversies or unearth previously unknown features of human history.

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