Population Variation of the Human Genome

The human genome is the source of all genotypes and inherited phenotypes, including innumerous genetic disorders found throughout different populations worldwide. Much of the variation found today in Homo sapiens was accumulated during a long period of indigenous diversification of our species, in the course of the “natural” settling of all continents in the past 200,000 years. Further variation has been summed up much more recently, since 1492, with an increasing process of intercontinental gene flow towards the modern and globalized cities and countries. This chapter focus on describing the genomewide variation today represented in about 8 billion individuals of our species, and its implication in phenotypes and diseases.