The Missing Person problem through the lens of information theory

IF 3.2 2区 医学 Q2 GENETICS & HEREDITY
Franco Marsico , Gustavo Sibilla , Ma Soledad Escobar , Ariel Chernomoretz
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引用次数: 0

Abstract

Missing person cases typically require a genetic kinship test to determine the relationship between an unidentified individual and the relatives of the missing person. When not enough genetic evidence has been collected the lack of statistical power of these tests might lead to unreliable results. This is particularly true when just a few distant relatives are available for genotyping. In this contribution, we considered a Bayesian network approach for kinship testing and proposed several information theoretic metrics in order to quantitatively evaluate the information content of pedigrees. We show how these statistics are related to the widely used likelihood ratio values and could be employed to efficiently prioritize family members in order to optimize the statistical power in missing person problems. Our methodology seamlessly integrates with Bayesian modeling approaches, like the GENis platform that we have recently developed for high-throughput missing person identification tasks. Furthermore, our approach can also be easily incorporated into Elston-Stewart forensic frameworks. To facilitate the application of our methodology, we have developed the forensIT package, freely available on CRAN repository, which implements all the methodologies described in our manuscript.

从信息论的角度看 "失踪人口 "问题
失踪人员案件通常需要进行遗传亲缘关系测试,以确定身份不明者与失踪人员亲属之间的关系。当没有收集到足够的基因证据时,这些检测缺乏统计能力可能会导致不可靠的结果。当只有少数远亲可以进行基因分型时,情况尤其如此。在这篇论文中,我们考虑了亲缘关系测试的贝叶斯网络方法,并提出了几种信息论指标,以定量评估血统的信息含量。我们展示了这些统计量与广泛使用的似然比值之间的关系,并可用于有效地确定家族成员的优先顺序,以优化失踪人员问题的统计能力。我们的方法可与贝叶斯建模方法无缝集成,比如我们最近为高通量失踪人员识别任务开发的 GENis 平台。此外,我们的方法还可以很容易地集成到埃尔斯顿-斯图尔特法医框架中。为了便于应用我们的方法,我们开发了 forensIT 软件包,可在 CRAN 存储库中免费获取,该软件包实现了我们手稿中描述的所有方法。
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来源期刊
CiteScore
7.50
自引率
32.30%
发文量
132
审稿时长
11.3 weeks
期刊介绍: Forensic Science International: Genetics is the premier journal in the field of Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts. The scope of the journal includes: Forensic applications of human polymorphism. Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies. Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms. Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications. Non-human DNA polymorphisms for crime scene investigation. Population genetics of human polymorphisms of forensic interest. Population data, especially from DNA polymorphisms of interest for the solution of forensic problems. DNA typing methodologies and strategies. Biostatistical methods in forensic genetics. Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches. Standards in forensic genetics. Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards. Quality control. Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies. Criminal DNA databases. Technical, legal and statistical issues. General ethical and legal issues related to forensic genetics.
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