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法医学中的遗传基因研究:当前的方法、知识与实践。

Investigative genetic genealogy: Current methods, knowledge and practice.

机构信息

Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Department of Forensic Sciences, Oslo University Hospital, Oslo, Norway.

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Santiago de Compostela, Spain.

出版信息

Forensic Sci Int Genet. 2021 May;52:102474. doi: 10.1016/j.fsigen.2021.102474. Epub 2021 Jan 30.

Abstract

Investigative genetic genealogy (IGG) has emerged as a new, rapidly growing field of forensic science. We describe the process whereby dense SNP data, commonly comprising more than half a million markers, are employed to infer distant relationships. By distant we refer to degrees of relatedness exceeding that of first cousins. We review how methods of relationship matching and SNP analysis on an enlarged scale are used in a forensic setting to identify a suspect in a criminal investigation or a missing person. There is currently a strong need in forensic genetics not only to understand the underlying models to infer relatedness but also to fully explore the DNA technologies and data used in IGG. This review brings together many of the topics and examines their effectiveness and operational limits, while suggesting future directions for their forensic validation. We further investigated the methods used by the major direct-to-consumer (DTC) genetic ancestry testing companies as well as submitting a questionnaire where providers of forensic genetic genealogy summarized their operation/services. Although most of the DTC market, and genetic genealogy in general, has undisclosed, proprietary algorithms we review the current knowledge where information has been discussed and published more openly.

摘要

调查性遗传基因学(IGG)已成为法医学中一个新兴的、快速发展的领域。我们描述了一种利用密集的 SNP 数据(通常包含超过 50 万个标记)推断远距离亲属关系的过程。这里所说的“远距离”是指亲属关系超过表亲的程度。我们回顾了在法医学背景下如何使用关系匹配和 SNP 分析的扩展方法,以识别刑事调查或失踪人员中的嫌疑人。法医学遗传学目前不仅需要了解推断亲属关系的基础模型,还需要充分探索在 IGG 中使用的 DNA 技术和数据。这篇综述汇集了许多主题,并考察了它们的有效性和操作限制,同时为它们的法医验证提出了未来的方向。我们进一步调查了主要的直接面向消费者(DTC)遗传祖先测试公司所使用的方法,以及提交了一份问卷,要求法医遗传基因学的提供者总结他们的业务/服务。尽管大多数 DTC 市场和一般的遗传基因学都有未公开的、专有的算法,但我们会审查已经被讨论和更公开地发表的信息的当前知识。

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