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Easykin:一款灵活易用的在线工具,用于法医亲属关系测试和失踪人员识别。

Easykin: a flexible and user-friendly online tool for forensic kinship testing and missing person identification.

机构信息

Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, No. 74 Zhongshan Road II, 510080, Guangdong, People's Republic of China.

School of Medicine, Jiaying University, Meizhou, 514015, People's Republic of China.

出版信息

Int J Legal Med. 2023 Nov;137(6):1671-1681. doi: 10.1007/s00414-023-03083-1. Epub 2023 Sep 25.

DOI:10.1007/s00414-023-03083-1
PMID:37747571
Abstract

In forensic kinship testing and missing person identification, it is a fundamental question to choose the most informative reference relatives, select appropriate genotyping systems, and evaluate the weight of evidence comprehensively. Despite that several useful tools have been developed, they have not addressed these questions satisfactorily. In this paper, we develop a flexible and user-friendly online tool, Easykin, to address the aforementioned issues. It has some promising features: (i) Pedigrees can be constructed easily and presented intuitively with just a few mouse clicks. (ii) System power can be estimated before testing based on certain set of markers and reference relatives. (iii) The pruning function of EasyKin enables users to choose appropriate subsets of available references. (iv) Parameters at a specific LR for a single case may ease evidence interpretation. (v) The user interface (UI) is an HTML-based dashboard, which is friendly to both professional and non-professional users and can be used anytime and anywhere. Here, we presented three common cases as examples to demonstrate how kinship testing and missing person identification can be improved with EasyKin. In conclusion, this tool provides a one-stop solution for forensic use, that is, instructing users to choose appropriate kits and reference relatives before testing, calculating LR in the testing, and providing parameters for data interpretation after testing. EasyKin is freely available at https://forensicsysu.shinyapps.io/EasyKin/ .

摘要

在法医亲缘关系鉴定和失踪人员识别中,选择最具信息量的参考亲属、选择合适的基因分型系统以及全面评估证据权重是一个基本问题。尽管已经开发了一些有用的工具,但它们并没有令人满意地解决这些问题。在本文中,我们开发了一个灵活且用户友好的在线工具 Easykin,以解决上述问题。它具有一些有前途的功能:(i) 通过只需点击几下鼠标即可轻松构建系谱图,并直观地呈现。(ii) 可以根据特定的标记和参考亲属集在测试前估计系统能力。(iii) EasyKin 的修剪功能使用户能够选择可用参考的适当子集。(iv) 特定 LR 下的参数可以方便单个案例的证据解释。(v) 用户界面 (UI) 是一个基于 HTML 的仪表板,既对专业用户也对非专业用户友好,并且可以随时随地使用。在这里,我们展示了三个常见案例作为示例,演示如何使用 EasyKin 改进亲缘关系鉴定和失踪人员识别。总之,该工具为法医应用提供了一站式解决方案,即在测试前指导用户选择合适的试剂盒和参考亲属,在测试中计算 LR,并在测试后提供数据解释的参数。EasyKin 可在 https://forensicsysu.shinyapps.io/EasyKin/ 免费获取。

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Prioritising family members for genotyping in missing person cases: A general approach combining the statistical power of exclusion and inclusion.对失踪人口案件中的亲属进行优先基因分型:结合排除和纳入统计效力的一般方法。
Forensic Sci Int Genet. 2020 Nov;49:102376. doi: 10.1016/j.fsigen.2020.102376. Epub 2020 Sep 11.
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Optimizing the information increase through the addition of relatives and genetic markers in identification and kinship cases.
通过在身份识别和亲属关系案件中增加亲属和遗传标记来优化信息增益。
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Improved pairwise kinship analysis using massively parallel sequencing.利用大规模并行测序技术提高成对亲缘关系分析。
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Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'.评估基于DNA的身份鉴定的统计效力,以“阿根廷失踪孙辈”为例。
Forensic Sci Int Genet. 2017 Nov;31:57-66. doi: 10.1016/j.fsigen.2017.08.006. Epub 2017 Aug 12.
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