Geographic distribution and adaptive significance of genomic structural variants: an anthropological genetics perspective

Anthropological geneticists have successfully used single nucleotide and short tandem repeat variations across human genomes to reconstruct human history. These markers have also been used extensively to identify adaptive and phenotypic variation. The recent advent of high-throughput genomic technologies revealed an overlooked type of genomic variation, namely structural variants (SVs). In fact, some SVs may contribute to human adaptation in substantial and previously unexplored ways. SVs include deletions, insertions, duplications, inversions and translocations of genomic segments that vary among individuals from the same species. SVs are much less numerous than single nucleotide variants, but account for at least seven times more variable base pairs than do single nucleotide variants when two human genomes are compared. Moreover, recent studies have shown that SVs have higher mutation rates than single nucleotide variants when the affected base pairs are considered, especially in cert...