Inferring Genetic Ancestry: Opportunities, Challenges, and Implications
Inferring Genetic Ancestry: Opportunities, Challenges, and Implications
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DOI：
10.1016/j.ajhg.2010.03.011
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发表时间：
2010-05-14
影响因子：
9.8
通讯作者：
Clark, Andrew G.
中科院分区：
文献类型：
--
作者：
Royal, Charmaine D.;Novembre, John;Clark, Andrew G.
公众对直接面向消费者（DTC）的基因血统检测的兴趣日益增加，同时也日益关注从检测的个人和社会影响到祖先推断的科学有效性等问题。“祖先”的概念本身在一般和科学界都受到误解。我们所说的祖先是什么意思？祖先究竟是如何测量的？这样的祖先可以追溯到多久以前，通过哪种遗传工具来确定？我们如何在基因研究中验证关于祖先的推断？有哪些数据可以证明我们有能力正确地做到这一点？从我们的研究发现和测试结果中，我们能说什么，不能说什么？这份白皮书来自美国人类遗传学学会（ASHG）祖先和祖先测试工作组，以2008年ASHG祖先测试总结声明为基础，对学术界和工业界遗传祖先推断的关键科学和非科学方面进行了更深入的分析。最后提出了一些建议，以推动当前的辩论，并促进制定有关使用这些不断发展的技术的科学、合乎道德和关注社会的指导方针。
Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both the general and scientific communities. What do we mean by ancestry? How exactly is ancestry measured? How far back can such ancestry be defined and by which genetic tools? How do we validate inferences about ancestry in genetic research? What are the data that demonstrate our ability to do this correctly? What can we say and what can we not say from our research findings and the test results that we generate? This white paper from the American Society of Human Genetics (ASHG) Ancestry and Ancestry Testing Task Force builds upon the 2008 ASHG Ancestry Testing Summary Statement in providing a more in-depth analysis of key scientific and non-scientific aspects of genetic ancestry inference in academia and industry. It culminates with recommendations for advancing the current debate and facilitating the development of scientifically based, ethically sound, and socially attentive guidelines concerning the use of these continually evolving technologies.