Since the completion of the human genome sequencing project, the discovery and characterization of human genetic variation is a principal focus for future research. Comparative studies across ethnically diverse human populations and across human and nonhuman primate species is important for reconstructing human evolutionary history and for understanding the genetic basis of human disease. In this review, we summarize data on patterns of human genetic diversity and the evolutionary forces (mutation, genetic drift, migration, and selection) that have shaped these patterns of variation across both human populations and the genome. African population samples typically have higher levels of genetic diversity, a complex population substructure, and low levels of linkage disequilibrium (LD) relative to non-African populations. We discuss these differences and their implications for mapping disease genes and for understanding how population and genomic diversity have been important in the evolution, differentiation, and adaptation of humans.

中文翻译：

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人类遗传多样性的模式：对人类进化史和疾病的影响。

自人类基因组测序项目完成以来，人类遗传变异的发现和表征是未来研究的主要重点。对不同种族的人群以及人类和非人类灵长类物种进行的比较研究对于重建人类进化史和理解人类疾病的遗传基础非常重要。在这篇综述中，我们总结了有关人类遗传多样性和进化力（突变，遗传漂移，迁移和选择）的数据，这些数据已经影响了人类和基因组的变异。与非非洲人口相比，非洲人口样本通常具有较高的遗传多样性水平，复杂的人口亚结构和较低的连锁不平衡度（LD）。