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本文引用的文献

1
Consumer genomics will change your life, whether you get tested or not.消费基因检测将改变你的生活,无论你是否接受检测。
Genome Biol. 2018 Aug 20;19(1):120. doi: 10.1186/s13059-018-1506-1.
2
Genealogy databases and the future of criminal investigation.家谱数据库与刑事调查的未来。
Science. 2018 Jun 8;360(6393):1078-1079. doi: 10.1126/science.aau1083.
3
Quantitative analysis of population-scale family trees with millions of relatives.对包含数百万亲属的大规模家族树进行定量分析。
Science. 2018 Apr 13;360(6385):171-175. doi: 10.1126/science.aam9309. Epub 2018 Mar 1.
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"Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers.“通往文献的桥梁”?第三方基因解读工具及工具开发者的观点。
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DNA.Land is a framework to collect genomes and phenomes in the era of abundant genetic information.DNA.Land是一个在遗传信息丰富的时代收集基因组和表型组的框架。
Nat Genet. 2018 Feb;50(2):160-165. doi: 10.1038/s41588-017-0021-8.
6
Federal Policy for the Protection of Human Subjects. Final rule.《保护人类受试者联邦政策》。最终规则。
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7
Routes for breaching and protecting genetic privacy.突破和保护遗传隐私的途径。
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8
Forensic familial searching: scientific and social implications.法医学中的家系调查:科学和社会影响。
Nat Rev Genet. 2013 Jul;14(7):445. doi: 10.1038/nrg3519.
9
Identifying personal genomes by surname inference.姓氏推断识别个人基因组。
Science. 2013 Jan 18;339(6117):321-4. doi: 10.1126/science.1229566.
10
Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples.在孤立和世界性的遗传样本中,隐晦的远亲很常见。
PLoS One. 2012;7(4):e34267. doi: 10.1371/journal.pone.0034267. Epub 2012 Apr 3.

利用远程家族搜索推断基因组数据的身份信息。

Identity inference of genomic data using long-range familial searches.

机构信息

MyHeritage, Or Yehuda 6037606, Israel.

Department of Computer Science, Fu Foundation School of Engineering, Columbia University, New York, NY, USA.

出版信息

Science. 2018 Nov 9;362(6415):690-694. doi: 10.1126/science.aau4832. Epub 2018 Oct 11.

DOI:10.1126/science.aau4832
PMID:30309907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7549546/
Abstract

Consumer genomics databases have reached the scale of millions of individuals. Recently, law enforcement authorities have exploited some of these databases to identify suspects via distant familial relatives. Using genomic data of 1.28 million individuals tested with consumer genomics, we investigated the power of this technique. We project that about 60% of the searches for individuals of European descent will result in a third-cousin or closer match, which theoretically allows their identification using demographic identifiers. Moreover, the technique could implicate nearly any U.S. individual of European descent in the near future. We demonstrate that the technique can also identify research participants of a public sequencing project. On the basis of these results, we propose a potential mitigation strategy and policy implications for human subject research.

摘要

消费者基因组数据库已达到数百万人的规模。最近,执法部门利用其中一些数据库通过远距离亲属关系来识别嫌疑人。我们使用经过消费者基因组测试的 128 万人的基因组数据,研究了该技术的效力。我们预计,约 60%的欧洲裔个体搜索结果将产生一个远房表亲或更亲近的匹配,这在理论上允许使用人口统计学标识符来识别他们。此外,该技术可能在不久的将来牵连到几乎所有的欧洲裔美国个体。我们证明,该技术还可以识别公共测序项目的研究参与者。基于这些结果,我们为人类受试者研究提出了一种潜在的缓解策略和政策影响。