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arXiv 2012.12532q-bio.PE
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将人口历史整合到不同人口的遗传研究中的机遇和挑战:夏威夷土著人的激励性例子

The opportunities and challenges of integrating population histories into genetic studies of diverse populations: a motivating example from Native Hawaiians

Charleston W. K. Chiang

摘要:

目前迫切需要将遗传研究扩展到不同的人群,但仍存在一些障碍,包括(但不限于)难以从不同人群中大量招募个体,以及现有基因组参考缺乏代表性。尽管存在这些障碍,但研究多个不同的人群将提供信息丰富的、针对特定人群的见解。以夏威夷原住民为例,以独特的进化史为例,我认为通过开发关键的基因组资源并将进化思想融入遗传流行病学,我们将有机会有效地提高我们对遗传风险因素的认识,改善健康差距,并改善这一服务不足的人群的医疗保健。

英文摘要:

There is an urgent and well-recognized need to extend genetic studies to diverse populations, but several obstacles continue to be prohibitive, including (but not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and the lack of representation in available genomic references. These obstacles notwithstanding, studying multiple diverse populations would provide informative, population-specific insights. Using Native Hawaiians as an example of an understudied population with a unique evolutionary history, I will argue that by developing key genomic resources and integrating evolutionary thinking into genetic epidemiology, we will have the opportunity to efficiently advance our knowledge of the genetic risk factors, ameliorate health disparity, and improve healthcare in this underserved population.

机构、总结、中文摘要均由AI分析而来,可能存在错误,请以论文正文为准。

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