Human genome diversity: frequently asked questions

Abstract

Despite our relatively large population size, humans are genetically less variable than other primates. Many allele frequencies and statistical descriptors of genome diversity form broad gradients, tracing the main expansion from Africa, local migrations, and sometimes adaptation. However, this continuous variation is discordant across loci, and principally seems to reflect different blends of common and often cosmopolitan alleles rather than the presence of distinct gene pools in different regions of the world. The elusive structure of human populations could lead to spurious associations if the effects of shared ancestry are not properly dealt with; indeed, this is among the causes (although not the only one) of the difficulties encountered in discovering the loci responsible for quantitative traits and complex diseases. However, the rapidly growing body of data on our genomic diversity has already cast new light on human population history and is now revealing intricate biological relationships among individuals and populations of our species.