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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。

Prioritising family members for genotyping in missing person cases: A general approach combining the statistical power of exclusion and inclusion.

机构信息

Department of Medical Genetics, University of Oslo, PB 4956 Nydalen, 0424 Oslo, Norway.

Banco Nacional de Datos Genéticos, Avda. Córdoba 831, C1054AAH CABA, Argentina.

出版信息

Forensic Sci Int Genet. 2020 Nov;49:102376. doi: 10.1016/j.fsigen.2020.102376. Epub 2020 Sep 11.

DOI:10.1016/j.fsigen.2020.102376
PMID:32979623
Abstract

Missing person identification typically involves genetic matching of a person of interest against relatives of the missing person. In cases with few available relatives, exhumations or other substantial efforts may be necessary in order to secure adequate statistical power. We propose a simulation approach for solving prioritisation problems arising in such cases. Conditioning on the already typed individuals we estimate the power of each alternative, both to detect the true person, and to exclude false candidates. Graphical summaries of the simulations are given in complementary power plots, facilitating interpretation and decision making. Through a series of examples originating from the well-known Missing grandchildren of Argentina we demonstrate that our method may untangle complex prioritisation problems and other power-related questions. In particular we offer novel insights in recent cases where only children of the potential match are available for testing. We also show that X-chromosomal markers may give high statistical power in missing person identification, but that this requires careful selection of relatives for genotyping. All simulations, power calculations and plots are done with the R package forrel.

摘要

失踪人口识别通常涉及将有兴趣的人与其失踪人员的亲属进行基因匹配。在可用亲属较少的情况下,可能需要挖掘或其他大量努力,以确保获得足够的统计能力。我们提出了一种模拟方法来解决此类情况下出现的优先级问题。根据已经分型的个体,我们估计每种替代方案的能力,既可以检测到真正的人,也可以排除错误的候选人。模拟的图形摘要以补充功率图的形式给出,便于解释和决策。通过一系列源自著名的阿根廷失踪孙子孙女的例子,我们证明了我们的方法可以解决复杂的优先级问题和其他与能力相关的问题。特别是,我们提供了最近只有潜在匹配的孩子可供测试的案例的新见解。我们还表明,X 染色体标记在失踪人口识别中可能具有较高的统计能力,但这需要仔细选择用于基因分型的亲属。所有模拟、功率计算和绘图都是使用 R 包 forrel 完成的。

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