论文标题

使用DNA混合物的峰高数据推断复杂关系

Inference about complex relationships using peak height data from DNA mixtures

论文作者

Green, Peter J., Mortera, Julia

论文摘要

在刑事案件和民事案件中,人们对涉及关系的DNA混合物的分析需求越来越大。例如,目标可能是确定捐赠者可能与之相关的DNA混合物的贡献者,或根据混合物来推断个体之间的关系。 本文介绍了一种涉及具有任意复杂关系的贡献者的DNA混合物的建模和计算方法。它建立在Jacquard凝结的身份系数的扩展上,以指定和计算联合关系,不仅是成对关系,包括近交的可能性。开发的方法应用于涉及失踪人员的两个案例示例,以及对绩效的模拟研究,其中该方法从合成数据中恢复了具有已知“真实”家庭结构的合成数据的复杂关系信息的能力。 用于分析示例的方法是在新的Kinmix R软件包中实现的,该软件包扩展了Dnamixtures软件包,以允许与相关贡献者建模DNA混合物。 Kinmix从Dnamixt继承了与许多贡献者以时间和空间效率的方式处理混合物的能力。

In both criminal cases and civil cases there is an increasing demand for the analysis of DNA mixtures involving relationships. The goal might be, for example, to identify the contributors to a DNA mixture where the donors may be related, or to infer the relationship between individuals based on a mixture. This paper introduces an approach to modelling and computation for DNA mixtures involving contributors with arbitrarily complex relationships. It builds on an extension of Jacquard's condensed coefficients of identity, to specify and compute with joint relationships, not only pairwise ones, including the possibility of inbreeding. The methodology developed is applied to two casework examples involving a missing person, and simulation studies of performance, in which the ability of the methodology to recover complex relationship information from synthetic data with known `true' family structure is examined. The methods used to analyse the examples are implemented in the new KinMix R package, that extends the DNAmixtures package to allow for modelling DNA mixtures with related contributors. KinMix inherits from DNAmixtures the capacity to deal with mixtures with many contributors, in a time- and space-efficient way.

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