论文标题
使用DIP-STR标记系统时稀有类型匹配问题的解决方案
A solution for the rare type match problem when using the DIP-STR marker system
论文作者
论文摘要
罕见的类型匹配问题是一种评估挑战性的情况,在这种情况下,对DNA谱的分析揭示了参考数据库中不包含的一个(至少)一个等位基因的存在。这种情况是具有挑战性的,因为在给定人群中对轮廓发生频率的估计需要复杂的评估程序。当使用可用数据库的大小有限时,使用了稀有类型的匹配问题(证明自己对于处理不平衡的DNA混合物非常有用的DIP-STR标记系统非常有用)非常普遍。在Cereda,Biedermann,Hall和Taroni(2014)中提出的面向对象的贝叶斯网络评估证据的一般情况的价值,并非旨在应对这种特殊情况。在本文中,该模型被扩展并部分修改,以便能够在给定轮廓的任何(观察到但尚未观察到的)存在的情况下计算完整的贝叶斯可能性比。该方法基于Cereda(2017)在Y-STR数据中开发的方法。还提出了替代解决方案,例如插入式近似和经验贝叶斯方法论,并将其与完整的贝叶斯方法获得的结果进行了比较。
The rare type match problem is an evaluative challenging situation in which the analysis of a DNA profile reveals the presence of (at least) one allele which is not contained in the reference database. This situation is challenging because an estimate for the frequency of occurrence of the profile in a given population needs sophisticated evaluative procedures. The rare type match problem is very common when the DIP-STR marker system, which has proven itself very useful for dealing with unbalanced DNA mixtures, is used, essentially due to the limited size of the available database. The object-oriented Bayesian network proposed in Cereda, Biedermann, Hall and Taroni (2014) to assess the value of the evidence for general scenarios, was not designed to deal with this particular situation. In this paper, the model is extended and partially modified to be able to calculate the full Bayesian likelihood ratio in presence of any (observed and not yet observed) allele of a given profile. The method is based on the approach developed in Cereda (2017) for Y-STR data. Alternative solutions, such as the plug-in approximation and an empirical Bayesian methodology are also proposed and compared with the results obtained with the full Bayesian approach.