Thailand mutation and variation database (ThaiMUT)

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.

The first Malay database toward the ethnic-specific target molecular variation

“…Studying the variations in the human genome represents new horizons in genetic research, which would help to reduce health problems and develop new strategies towards designing better diagnostic and preventive approaches. Many general and locus specific mutation disease databases have been established [ 1 - 4 ]. It is also well known that different ethnic backgrounds may have different disease-causing mutation(s) and variation(s).…”

CanVaS: Documenting the genetic variation spectrum of Greek cancer patients

“…Many ambitious efforts for the construction of National Mutation Databases have been made in the past, focusing on clinically relevant variants that have been found in a number of genetic diseases (Charoute et al, 2014; Fakhro et al, 2016; Kleanthous et al, 2006; Patrinos et al, 2005; Pradhan et al, 2011; Ruangrit et al, 2008; Sipila & Aula, 2002; van Baal et al, 2007; Zlotogora et al, 2007). However, the majority have unfortunately become obsolete with time, a fact that highlights the difficulty of maintaining and updating such resources.…”

Web-Based Database and Viewer of East Asian Copy Number Variations

“…Many of them have already established large databases of CNVs from many different ethnic groups (Database of Genomic Variants [DGV], http://projects.tcag.ca; The Copy Number Variants Projects, http://www.sanger.ac.uk/research/areas/humangenetics/cnv/) [8]. There are also several databases for supporting population-specific studies, including the CNV Control Database for Japanese (http://gwas.lifesciencedb.jp), the Singapore Human Mutation and Polymorphism Database (shmed.bii.a-star.edu.sg) [9], and the Thailand Mutation and Variation Database (www4a.biotec.or.th) [10]. The accumulation of CNV information seems promising, in that we can gradually extend the knowledge of CNVs everywhere in the world.…”