Department of Ecology and Evolutionary Biology, University of California, Los Angeles, California 90403, USA.
Annu Rev Genomics Hum Genet. 2011;12:245-74. doi: 10.1146/annurev-genom-090810-183123.
Human groups show structured levels of genetic similarity as a consequence of factors such as geographical subdivision and genetic drift. Surveying this structure gives us a scientific perspective on human origins, sheds light on evolutionary processes that shape both human adaptation and disease, and is integral to effectively carrying out the mission of global medical genetics and personalized medicine. Surveys of population structure have been ongoing for decades, but in the past three years, single-nucleotide-polymorphism (SNP) array technology has provided unprecedented detail on human population structure at global and regional scales. These studies have confirmed well-known relationships between distantly related populations and uncovered previously unresolvable relationships among closely related human groups. SNPs represent the first dense genome-wide markers, and as such, their analysis has raised many challenges and insights relevant to the study of population genetics with whole-genome sequences. Here we draw on the lessons from these studies to anticipate the directions that will be most fruitful to pursue during the emerging whole-genome sequencing era.
人类群体由于地理划分和遗传漂变等因素表现出具有结构层次的遗传相似性。研究这种结构可以使我们从科学角度了解人类的起源，揭示塑造人类适应和疾病的进化过程，并且是有效开展全球医学遗传学和个性化医学任务的关键。对人口结构的调查已经进行了几十年，但在过去三年中，单核苷酸多态性 (SNP) 芯片技术在全球和区域范围内提供了前所未有的人类人口结构细节。这些研究证实了远距离相关人群之间的众所周知的关系，并揭示了以前无法解决的密切相关人类群体之间的关系。SNP 代表了第一个密集的全基因组标记，因此，它们的分析提出了许多与全基因组序列的群体遗传学研究相关的挑战和见解。在这里，我们借鉴这些研究的经验教训，预测在新兴的全基因组测序时代最有成效的研究方向。
