Lee Hwan Young, Song Injee, Ha Eunho, Cho Sung-Bae, Yang Woo Ick, Shin Kyoung-Jin
Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, Korea.
BMC Bioinformatics. 2008 Nov 17;9:483. doi: 10.1186/1471-2105-9-483.
For the past few years, scientific controversy has surrounded the large number of errors in forensic and literature mitochondrial DNA (mtDNA) data. However, recent research has shown that using mtDNA phylogeny and referring to known mtDNA haplotypes can be useful for checking the quality of sequence data.
We developed a Web-based bioinformatics resource "mtDNAmanager" that offers a convenient interface supporting the management and quality analysis of mtDNA sequence data. The mtDNAmanager performs computations on mtDNA control-region sequences to estimate the most-probable mtDNA haplogroups and retrieves similar sequences from a selected database. By the phased designation of the most-probable haplogroups (both expected and estimated haplogroups), mtDNAmanager enables users to systematically detect errors whilst allowing for confirmation of the presence of clear key diagnostic mutations and accompanying mutations. The query tools of mtDNAmanager also facilitate database screening with two options of "match" and "include the queried nucleotide polymorphism". In addition, mtDNAmanager provides Web interfaces for users to manage and analyse their own data in batch mode.
The mtDNAmanager will provide systematic routines for mtDNA sequence data management and analysis via easily accessible Web interfaces, and thus should be very useful for population, medical and forensic studies that employ mtDNA analysis. mtDNAmanager can be accessed at http://mtmanager.yonsei.ac.kr.
在过去几年中,法医学和文献中的线粒体DNA(mtDNA)数据存在大量错误,引发了科学争议。然而,最近的研究表明,利用mtDNA系统发育并参考已知的mtDNA单倍型有助于检查序列数据的质量。
我们开发了一个基于网络的生物信息学资源“mtDNAmanager”,它提供了一个方便的界面,支持mtDNA序列数据的管理和质量分析。mtDNAmanager对mtDNA控制区序列进行计算,以估计最可能的mtDNA单倍群,并从选定的数据库中检索相似序列。通过对最可能的单倍群(预期和估计的单倍群)进行阶段性指定,mtDNAmanager使用户能够系统地检测错误,同时确认明确的关键诊断突变和伴随突变的存在。mtDNAmanager的查询工具还通过“匹配”和“包含查询的核苷酸多态性”这两种选项促进数据库筛选。此外,mtDNAmanager为用户提供网络界面,以便他们以批处理模式管理和分析自己的数据。
mtDNAmanager将通过易于访问的网络界面为mtDNA序列数据管理和分析提供系统程序,因此对于采用mtDNA分析的群体、医学和法医学研究应该非常有用。可通过http://mtmanager.yonsei.ac.kr访问mtDNAmanager。