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推断遗传血统:机遇、挑战和影响。

Inferring genetic ancestry: opportunities, challenges, and implications.

机构信息

Institute for Genome Sciences & Policy, Duke University, Durham, NC 27708, USA.

出版信息

Am J Hum Genet. 2010 May 14;86(5):661-73. doi: 10.1016/j.ajhg.2010.03.011.

DOI:10.1016/j.ajhg.2010.03.011
PMID:20466090
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2869013/
Abstract

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.

摘要

公众对直接面向消费者(DTC)基因血统检测的兴趣日益浓厚,与此同时,人们越来越关注从检测的个人和社会影响到血统推断的科学有效性等问题。“血统”这一概念在普通大众和科学界都容易引起误解。我们所说的血统是什么意思?血统究竟是如何衡量的?这种血统可以追溯到多远,又可以用哪些遗传工具来定义?我们如何验证遗传研究中关于血统的推断?有哪些数据可以证明我们能够正确地做到这一点?从我们的研究结果和生成的测试结果中,我们可以说什么,不能说什么?美国人类遗传学学会(ASHG)血统和血统测试特别工作组的这份白皮书在 2008 年 ASHG 血统测试摘要声明的基础上,对学术界和工业界进行遗传血统推断的关键科学和非科学方面进行了更深入的分析。它最终提出了推进当前辩论的建议,并为这些不断发展的技术的使用制定科学、伦理和社会关注的指导方针提供了便利。

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