Yang In Seok, Lee Hwan Young, Yang Woo Ick, Shin Kyoung-Jin
Department of Forensic Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea.
J Forensic Sci. 2013 Jul;58(4):972-80. doi: 10.1111/1556-4029.12139. Epub 2013 May 17.
Mitochondrial DNA (mtDNA) is a valuable tool in the fields of forensic, population, and medical genetics. However, recording and comparing mtDNA control region or entire genome sequences would be difficult if researchers are not familiar with mtDNA nomenclature conventions. Therefore, mtDNAprofiler, a Web application, was designed for the analysis and comparison of mtDNA sequences in a string format or as a list of mtDNA single-nucleotide polymorphisms (mtSNPs). mtDNAprofiler which comprises four mtDNA sequence-analysis tools (mtDNA nomenclature, mtDNA assembly, mtSNP conversion, and mtSNP concordance-check) supports not only the accurate analysis of mtDNA sequences via an automated nomenclature function, but also consistent management of mtSNP data via direct comparison and validity-check functions. Since mtDNAprofiler consists of four tools that are associated with key steps of mtDNA sequence analysis, mtDNAprofiler will be helpful for researchers working with mtDNA. mtDNAprofiler is freely available at http://mtprofiler.yonsei.ac.kr.
线粒体DNA（mtDNA）是法医、群体和医学遗传学领域中的一项重要工具。然而，如果研究人员不熟悉mtDNA命名规则，记录和比较mtDNA控制区或全基因组序列将变得困难。因此，设计了一个名为mtDNAprofiler的网络应用程序，用于以字符串格式或作为mtDNA单核苷酸多态性（mtSNP）列表来分析和比较mtDNA序列。mtDNAprofiler包含四个mtDNA序列分析工具（mtDNA命名、mtDNA组装、mtSNP转换和mtSNP一致性检查），不仅通过自动命名功能支持对mtDNA序列的准确分析，还通过直接比较和有效性检查功能对mtSNP数据进行一致管理。由于mtDNAprofiler由与mtDNA序列分析关键步骤相关的四个工具组成，它将对从事mtDNA研究的人员有所帮助。可通过http://mtprofiler.yonsei.ac.kr免费获取mtDNAprofiler。
