The Human Genome and Its Variations

In this chapter, we will briefly describe the genetic adaption of anatomically modern humans due to migration from Africa to new geographic and climatic environments in Asia and Europe. This led not only to obvious differences in skin color and other andromorphic features among the populations, but also in different resistance to diseases and diversity in dietary intake. The genetic basis of the variation of human populations and individuals has recently been studied and catalogued by large consortia, such as the 1000 Genomes project. Genome-wide genotyping and whole genome sequencing allows the study and analysis of complex diseases, such as T2D (type 2 diabetes) and cardiovascular disease (CVD), on the basis of dozens to hundreds of genetic variants, such as single nucleotide variants (SNVs) and copy number variations (CNVs).