Parson Walther, Dür Arne
Institute of Legal Medicine, Innsbruck Medical University Müllerstreet 44, 6020 Innsbruck, Austria.
Forensic Sci Int Genet. 2007 Jun;1(2):88-92. doi: 10.1016/j.fsigen.2007.01.018. Epub 2007 Mar 7.
Mitochondrial DNA databases stand as the basis for frequency estimations of mtDNA sequences that became relevant in a case. The establishment of mtDNA databases sounds trivial; however, it has been shown in the past that this undertaking is prone to error for several reasons, particularly human error. We have established a concept for mtDNA data generation, analysis, transfer and quality control that meets forensic standards. Due to the complexity of mtDNA population data tables it is often difficult if not impossible to detect errors, especially for the untrained eye. We developed software based on quasi-median network analysis that visualizes mtDNA data tables and thus signposts sequencing, interpretation and transcription errors. The mtDNA data (N=5173; release 1) are stored and made publicly available via the Internet in the form of the EDNAP mtDNA Population Database, short EMPOP. This website also facilitates quasi-median network analysis and provides results that can be used to check the quality of mtDNA sequence data. EMPOP has been launched on 16 October 2006 and is since then available at http://www.empop.org.
线粒体DNA数据库是案件中相关线粒体DNA序列频率估计的基础。线粒体DNA数据库的建立听起来很简单；然而，过去已经表明，这项工作由于多种原因，特别是人为错误，容易出错。我们已经建立了一个符合法医标准的线粒体DNA数据生成、分析、转移和质量控制的概念。由于线粒体DNA群体数据表的复杂性，往往很难甚至不可能检测到错误，尤其是对于未经训练的人来说。我们开发了基于准中位数网络分析的软件，该软件可以可视化线粒体DNA数据表，从而标记测序、解释和转录错误。线粒体DNA数据（N = 5173；版本1）以EDNAP线粒体DNA群体数据库（简称EMPOP）的形式通过互联网存储并公开提供。该网站还便于进行准中位数网络分析，并提供可用于检查线粒体DNA序列数据质量的结果。EMPOP于2006年10月16日推出，此后可在http://www.empop.org上获取。
