作为一种遗传标记，线粒体DNA已被广泛应用于进化生物学、分子人类学、群体遗传学、法医学和生物医学等多种学科。近年来，随着测序技术的不断发展，大量的人类和其他物种的线粒体DNA序列相继被测定，如何快速有效的分析、存储和利用这些数据已成为摆在众多研究人员面前的一个亟待解决的问题，而一个专业的、高效的线粒体DNA数据分析平台的建立将有利于研究人员更加快速的发掘数据中有价值的信息并甄别数据中可能存在的错误。 本工作主要开发了两款用于处理线粒体DNA数据的软件。其中，单机版软件MitoExplorer主要用于从GenBank中批量下载线粒体DNA数据，并对其注释信息进行解析和提取。服务器版软件MitoTool主要用于：（1）自动划分人类线粒体DNA的单倍型类群；（2）判断已划分的线粒体DNA单倍型类群归属是否正确；（3）显示变异位点的潜在致病性、在物种间的保守性及其对编码蛋白的影响；（4）统计分析病例组-正常对照组研究中线粒体单倍型类群分布频率的差异；（5）提供多种线粒体相关数据的检索和下载服务。随着上述两款软件功能的完善和界面的优化，由它们构建而成的数据分析平台将能满足大规模线粒体DNA分析的需求。; As a genetic marker，mitochondrial DNA (mtDNA) has been widely used in various fields including evolutionary biology, molecular anthropology, population genetics, forensics and biomedicine. With the rapid development of sequencing techniques, mtDNA data accumulated strikingly during the past decades. Therefore, a versatile platform to handle these bulk data and retrieve information is urgent to be founded. This work presents two softwares which were designed for analyzing mtDNA data. The MitoExplorer, stand-alone software, is used to download mtDNA sequences from GenBank in batch and extract well-annotated information from these sequences. The MitoTool, a web-based software (www.mitotool.org), embodies multiple modules which cover a wide array of functions: (i) to automatically classify haplogroup according to human mtDNA sequences or variants; (ii) to discover possibly missing variants of the samples with claimed haplogroup status; (iii) to estimate the evolutionary conservation index, protein-coding effect and potential pathogenicity of certain substitutions; (iv) to perform statistical analysis for haplogroup distribution frequency between case and control groups; (v) to offer an integrated database for retrieving five types of mitochondrion-related information. With the advancement of its functional extensions and dynamic visualization, it is highly promising that the platform composed of MitoExplorer and MitoTool will meet all the needs from massive mtDNA studies.
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