Gill Peter, Puch-Solis Roberto, Curran James
University of Strathclyde, Royal College, 204 George Street, Glasgow G1 1XW, UK.
Forensic Sci Int Genet. 2009 Mar;3(2):104-11. doi: 10.1016/j.fsigen.2008.11.009. Epub 2009 Jan 20.
Although the low-template or stochastic threshold is in widespread use and is typically set to 150-200 rfu peak height, there has been no consideration on its determination and meaning. In this paper we propose a definition that is based upon the specific risk of wrongful designation of a heterozygous genotype as a homozygote which could lead to a false exclusion. Conversely, it is possible that a homozygote {a,a} could be designated as {a,F} where 'F' is a 'wild card', and this could lead to increased risk of false inclusion. To determine these risk levels, we analysed an experimental dataset that exhibited extreme drop-out using logistic regression. The derived probabilities are employed in a graphical model to determine the relative risks of wrongful designations that may cause false inclusions and exclusions. The methods described in this paper provide a preliminary solution of risk evaluation for any DNA process that employs a stochastic threshold.
尽管低模板或随机阈值已被广泛使用,且通常设定为150 - 200 rfu峰高,但对于其确定方法和意义却未作任何考量。在本文中,我们提出了一种定义,该定义基于将杂合基因型错误判定为纯合子从而可能导致错误排除的特定风险。相反,纯合子{a,a}有可能被判定为{a,F},其中“F”为“通配符”,这可能会增加错误纳入的风险。为了确定这些风险水平,我们使用逻辑回归分析了一个呈现极端缺失情况的实验数据集。将推导得出的概率应用于一个图形模型,以确定可能导致错误纳入和排除的错误判定的相对风险。本文所述方法为任何采用随机阈值的DNA检测过程提供了风险评估的初步解决方案。