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泰国突变和变异数据库(ThaiMUT)。

Thailand mutation and variation database (ThaiMUT).

机构信息

Biostatistics and Informatics Laboratory, Genome Institute, National Center for Genetic Engineering and Biotechnology (BIOTEC), Pathumtani, Thailand.

出版信息

Hum Mutat. 2008 Aug;29(8):E68-75. doi: 10.1002/humu.20787.

Abstract

With the completion of the human genome project, novel sequencing and genotyping technologies had been utilized to detect mutations. Such mutations have continually been produced at exponential rate by researchers in various communities. Based on the population's mutation spectra, occurrences of Mendelian diseases are different across ethnic groups. A proportion of Mendelian diseases can be observed in some countries at higher rates than others. Recognizing the importance of mutation effects in Thailand, we established a National and Ethnic Mutation Database (NEMDB) for Thai people. This database, named Thailand Mutation and Variation database (ThaiMUT), offers a web-based access to genetic mutation and variation information in Thai population. This NEMDB initiative is an important informatics tool for both research and clinical purposes to retrieve and deposit human variation data. The mutation data cataloged in ThaiMUT database were derived from journal articles available in PubMed and local publications. In addition to collected mutation data, ThaiMUT also records genetic polymorphisms located in drug related genes. ThaiMUT could then provide useful information for clinical mutation screening services for Mendelian diseases and pharmacogenomic researches. ThaiMUT can be publicly accessed from http://gi.biotec.or.th/thaimut.

摘要

随着人类基因组计划的完成,新的测序和基因分型技术已被用于检测突变。这些突变一直在各个领域的研究人员以指数级的速度不断产生。基于人群的突变谱,孟德尔疾病的发生在不同种族之间存在差异。一些国家的一些孟德尔疾病的发病率高于其他国家。认识到突变效应在泰国的重要性,我们为泰国人建立了一个国家和民族突变数据库(NEMDB)。这个名为泰国突变和变异数据库(ThaiMUT)的数据库为泰国人群中的遗传突变和变异信息提供了基于网络的访问方式。这个 NEMDB 倡议是一个重要的信息学工具,用于研究和临床目的,以检索和存储人类变异数据。ThaiMUT 数据库中编目的突变数据来自 PubMed 中可用的期刊文章和本地出版物。除了收集的突变数据外,ThaiMUT 还记录了药物相关基因中的遗传多态性。ThaiMUT 可以为孟德尔疾病的临床突变筛查服务和药物基因组学研究提供有用的信息。可以通过 http://gi.biotec.or.th/thaimut 公开访问 ThaiMUT。

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