Zimmermann Bettina, Rock Alexander W, Dur Arne, Parson Walther
Walther Parson, Institute of Legal Medicine, Medical University, Mullerstrasse 44, A-6020 Innsbruck, Austria,
Croat Med J. 2014 Apr;55(2):115-20. doi: 10.3325/cmj.2014.55.115.
To provide a valuable tool for graphical representation of mitochondrial DNA (mtDNA) data that enables visual emphasis on complex substructures within the network to highlight possible ambiguities and errors.
We applied the new NETWORK graphical user interface, available via EMPOP (European DNA Profiling Group Mitochondrial DNA Population Database; www.empop.org) by means of two mtDNA data sets that were submitted for quality control.
The quasi-median network torsi of the two data sets resulted in complex reticulations, suggesting ambiguous data. To check the corresponding raw data, accountable nodes and connecting branches of the network could be identified by highlighting induced subgraphs with concurrent dimming of their complements. This is achieved by accentuating the relevant substructures in the network: mouse clicking on a node displays a list of all mtDNA haplotypes included in that node; the selection of a branch specifies the mutation(s) connecting two nodes. It is indicated to evaluate these mutations by means of the raw data.
Inspection of the raw data confirmed the presence of phantom mutations due to suboptimal electrophoresis conditions and data misinterpretation. The network software proved to be a powerful tool to highlight problematic data and guide quality control of mtDNA data tables.
提供一种用于线粒体DNA（mtDNA）数据图形化表示的有价值工具，该工具能够直观地突出网络内的复杂子结构，以突显可能存在的模糊性和错误。
我们通过欧洲DNA分析小组线粒体DNA群体数据库（EMPOP；www.empop.org）提供的新NETWORK图形用户界面，对两个提交进行质量控制的mtDNA数据集进行了应用。
两个数据集的准中位数网络扭结产生了复杂的网状结构，表明数据存在模糊性。为检查相应的原始数据，通过突出显示诱导子图并同时淡化其互补部分，可以识别网络中的可解释节点和连接分支。这是通过突出网络中的相关子结构来实现的：鼠标点击一个节点会显示该节点中包含的所有mtDNA单倍型列表；选择一个分支会指定连接两个节点的突变。建议通过原始数据评估这些突变。
对原始数据的检查证实，由于电泳条件欠佳和数据解读错误，存在幻影突变。该网络软件被证明是一种强大的工具，可突出有问题的数据并指导mtDNA数据表的质量控制。
