Familial Searching

Frederick R. Bieber, Charles H. Brenner, David Lazer
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引用次数: 2

Abstract

What is the probability that the likelihood ratio exceeds a threshold t, if a specified hypothesis is true? This question is asked, for instance, when performing power calculations for kinship testing, when computing true and false positive rates for familial searching and when computing the power of discrimination of a complex mixture. Answering this question is not straightforward, since there is are a huge number of possible genotypic combinations to consider. Different solutions are found in the literature. Several authors estimate the threshold exceedance probability using simulation. Corradi and Ricciardi [1] propose a discrete approximation to the likelihood ratio distribution which yields a lower and upper bound on the probability. Nothnagel et al. [2] use the normal distribution as an approximation to the likelihood ratio distribution. Dørum et al. [3] introduce an algorithm that can be used for exact computation, but this algorithm is computationally intensive, unless the threshold t is very large. We present three new approaches to the problem. Firstly, we show how importance sampling can be used to make the simulation approach significantly more efficient. Importance sampling is a statistical technique that turns out to work well in the current context. Secondly, we present a novel algorithm for computing exceedance probabilities. The algorithm is exact, fast and can handle relatively large problems. Thirdly, we introduce an approach that combines the novel algorithm with the discrete approximation of Corradi and Ricciardi. This last approach can be applied to very large problems and yields a lower and upper bound on the exceedance probability. The use of the different approaches is illustrated with examples from forensic genetics, such as kinship testing, familial searching and mixture interpretation. The algorithms are implemented in an R-package called DNAprofiles, which is freely available from CRAN. ! 2014 Elsevier Ireland Ltd. All rights reserved. * Tel.: þ31 633850120. E-mail address: m.v.kruijver@vu.nl
家族性搜索
如果指定的假设为真,似然比超过阈值t的概率是多少?例如,在进行亲属关系测试的功率计算时,在计算家族搜索的真阳性率和假阳性率时,以及在计算复杂混合物的辨别能力时,都会提出这个问题。回答这个问题并不简单,因为有大量可能的基因型组合需要考虑。在文献中找到了不同的解决方案。有几位作者用模拟的方法估计了阈值超出概率。Corradi和Ricciardi[1]提出了似然比分布的离散近似,该近似产生了概率的下界和上界。Nothnagel等人[2]使用正态分布作为似然比分布的近似。Dørum等人[3]介绍了一种可用于精确计算的算法,但除非阈值t非常大,否则该算法计算量很大。我们提出了解决这个问题的三种新方法。首先,我们展示了如何使用重要性采样使仿真方法显着提高效率。重要性抽样是一种统计技术,在当前情况下效果很好。其次,我们提出了一种计算超越概率的新算法。该算法精确、快速,可以处理较大的问题。第三,我们引入了一种将新算法与Corradi和Ricciardi离散逼近相结合的方法。最后一种方法可以应用于非常大的问题,并产生超出概率的下界和上界。通过法医遗传学的例子说明了不同方法的使用,例如亲属关系测试、家庭搜索和混合解释。这些算法是在一个名为DNAprofiles的r包中实现的,它可以从CRAN免费获得。! 2014爱思唯尔爱尔兰有限公司版权所有。*电话:þ31 633850120。电子邮箱:m.v.kruijver@vu.nl
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