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Balancing selection is an evolutionary process that encompasses several mechanisms: heterozygote advantage, negative frequency dependent selection, selective pressure that fluctuates in time or in space, and some cases of pleiotropy. The study of these mechanisms per se has been and still is a topic of great interest for evolutionary biologists, and has shaped the study of evolution throughout the last century. Before the proposition of the neutral theory of molecular evolution, it was believed that balancing selection was pervasive. The realization that much of the observed genetic diversity could be explained by neutral evolution thus motivated a better understanding of balancing selection as a selective regime capable of maintaining adaptive variants in populations. The study of balancing selection, in its early stages, was restricted to organisms that could be manipulated in the laboratory. With the advent of methods that allowed quantification of genetic variation – such as protein electrophoresis, small scale sequencing and genome-wide re-sequencing of thousands of individuals – human variation started to be actively studied and interpreted. Several studies have looked for signatures of natural selection – i.e., patterns of genomic variation that selective regimes leave in the genome – and evaluated their significance by comparing them to what would be expected under a strictly neutral scenario. Most of these efforts focused on the study of positive selection, thought of as the prime mechanism responsible for adaptive evolution. Only a few studies looked for signatures of balancing selection in the human genome. This is partially due to the paucity of powerful methods to detect its signatures. Moreover, previous studies either did not analyze data on genomic scale or focused primarily on protein-coding regions. Here, we describe a powerful and simple method to detect signatures of balancing selection. In humans, it outperforms other methods commonly used to detect such signatures and could in theory be used for other species, provided that its power is evaluated for each species through neutral simulations. Our method ("Non-Central Deviation", NCD) has two versions: NCD2, which requires polymorphism information on the ingroup species, as well as divergence information between the ingroup and an outgroup species, and NCD1, which only requires the ingroup information. Although NCD2 is more powerful for humans, NCD1 can be used for species that lack information from an outgroup.

Seleção balanceadora no genoma humano: relevância biológica e consequências deletérias