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Hum Mutat ; 29(8): E68-75, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18484585

RESUMO

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.


Assuntos
Bases de Dados Genéticas , Mutação , Biologia Computacional/métodos , Análise Mutacional de DNA , Genes , Doenças Genéticas Inatas/genética , Variação Genética , Genótipo , Humanos , Internet , Polimorfismo Genético , Tailândia , Interface Usuário-Computador
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