Human Genetic Variation, Shared and Private

Analyses of rare and common variants in the genome reveal another layer of human genetic variation within and among populations. The development of agriculture and livestock in the transition from the Paleolithic to the Neolithic era some 10,000 years ago heralded a demographic explosion in our species that is still ongoing today. Paradoxically, this rapid population growth, made possible by improved living conditions, may be responsible for an excess of damaging variants in our genome. Two papers in this issue, by Tennessen et al. (1) on page 64 and Nelson et al. (2) on page 100, report deep-resequencing analyses of all the human protein-coding genes (the exome) and of 202 genes that are putative drug targets in thousands of individuals, respectively. The studies show that most of the genetic variants occur at very low frequencies in human populations, which accumulate an excess of potentially harmful mutations.

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