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基于家系从复杂DNA混合物中推断亲缘关系

Pedigree-based relationship inference from complex DNA mixtures.

作者信息

Dørum Guro, Kaur Navreet, Gysi Mario

机构信息

Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland.

Department of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Aas, Norway.

出版信息

Int J Legal Med. 2017 May;131(3):629-641. doi: 10.1007/s00414-016-1526-x. Epub 2017 Jan 19.

Abstract

We present a general method for analysing DNA mixtures involving relatives that accounts for dropout and drop-in, mutations, silent alleles and population substructure. Whether the aim is to identify the contributors to a mixture who may be related, or to determine the relationship between individuals based on a DNA mixture, both types of problems can be handled by the method and software presented here. We focus on the latter scenario, motivated by non-invasive prenatal paternity testing where the profile of the child is available only in the form of a mixture with the mother's profile. Relationships are represented by pedigrees and can include kinship between more than two individuals. The software is freely available as a graphical user interface in the R package relMix.

摘要

我们提出了一种分析涉及亲属的DNA混合物的通用方法,该方法考虑了基因座缺失、基因座增加、突变、沉默等位基因和群体亚结构。无论目标是识别可能相关的混合物贡献者,还是基于DNA混合物确定个体之间的关系,这里介绍的方法和软件都可以处理这两类问题。我们关注后一种情况,这是由无创产前亲子鉴定推动的,在这种情况下,孩子的基因图谱只能以与母亲基因图谱混合的形式获得。关系由系谱表示,并且可以包括两个以上个体之间的亲属关系。该软件以R包relMix中的图形用户界面形式免费提供。

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