Statistical integration of allele frequencies from several organizations

Pub Date : 2023-12-18 DOI:10.1007/s42952-023-00243-2
Su Jin Jeong, Hyo-jung Lee, Soong Deok Lee, Su Jeong Park, Seung Hwan Lee, Jae Won Lee
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Abstract

Genetic evidence, especially evidence based on short tandem repeats, is of paramount importance for human identification in forensic inferences. In recent years, the identification of kinship using DNA evidence has drawn much attention in various fields. In particular, it is employed, using a criminal database, to confirm blood relations in forensics. The interpretation of the likelihood ratio when identifying an individual or a relationship depends on the allele frequencies that are used, and thus, it is crucial to obtain an accurate estimate of allele frequency. Each organization such as Supreme Prosecutors’ Office and Korean National Police Agency in Korea provides different statistical interpretations due to differing estimations of the allele frequency, which can lead to confusion in forensic identification. Therefore, it is very important to estimate allele frequency accurately, and doing so requires a certain amount of information. However, simply using a weighted average for each allele frequency may not be sufficient to determine biological independence. In this study, we propose a new statistical method for estimating allele frequency by integrating the data obtained from several organizations, and we analyze biological independence and differences in allele frequency relative to the weighted average of allele frequencies in various subgroups. Finally, our proposed method is illustrated using real data from 576 Korean individuals.

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统计整合多个组织的等位基因频率
基因证据,尤其是基于短串联重复序列的证据,对于法医推断中的人类身份识别至关重要。近年来,利用 DNA 证据进行亲属关系鉴定在各个领域引起了广泛关注。特别是在法医学中,人们利用犯罪数据库来确认血缘关系。在确认个人或亲属关系时,对似然比的解释取决于所使用的等位基因频率,因此,准确估计等位基因频率至关重要。由于对等位基因频率的估计不同,韩国最高检察院和韩国国家警察厅等每个机构都提供了不同的统计解释,这可能导致法医鉴定中的混乱。因此,准确估算等位基因频率非常重要,而这样做需要一定量的信息。然而,仅仅使用每个等位基因频率的加权平均值可能不足以确定生物独立性。在本研究中,我们提出了一种新的统计方法,通过整合从多个机构获得的数据来估算等位基因频率,并分析了生物独立性以及相对于不同亚组等位基因频率加权平均值的等位基因频率差异。最后,我们使用 576 个韩国个体的真实数据对我们提出的方法进行了说明。
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