The Cypriot and Iranian National Mutation Frequency Databases

Abstract

The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (http://www.goldenhelix.org/cypriot) and Iranian National Mutation Frequency Databases (http://www.goldenhelix.org/iranian), both derived from an academic effort to provide high quality and up-to-date information on the underlying genetic heterogeneity of inherited disorders in the Cypriot and Iranian populations, respectively. Both databases have been built and maintained online using ETHNOS platform, a specialized software, which provides the means for national mutation database construction and curation. Each database contains brief summaries of the various genetic disorders studied for each population, and an easy-touse query interface provides, both to specialist as well as to non-specialist users (i.e. patients and their families), instant access to the list and frequencies of the different mutations responsible for the inherited disorders in these populations. Furthermore, numerous links to the respective Online Mendelian Inheritance in Man (OMIM) entries and, when available, to the locus-specific databases fruitfully integrate the databases content into a single Web site. Both databases can serve as valuable online tools for molecular genetic testing of inherited disorders in these populations and could potentially motivate further investigations of yet unknown genetic diseases in the Cypriot and Iranian populations.

Genetic Databases and their Potential in Pharmacogenomics

“…These resources have recently emerged, mostly driven by the need to document the varying mutation spectrum observed for any gene (or multiple genes) associated with a genetic disorder, among different population and ethnic groups [10]. The first NEMDBs to come online were the Finnish database (http: //www.findis.org) [21], and the various NEMDBs that are available at the Golden Helix Server (http: //www.goldenhelix.org) [22,23]. In the latter case, a specialized database management system was introduced, namely ETHNOS (available in both flat-file and relational database format) that enables both basic query formulation and restrictedaccess data entry so that all records are manually curated to ensure high and consistent data quality [24].…”

National and ethnic mutation databases: recording populations' genography

“…Major disadvantages are the many incomplete fields for various disorders and/or genes (partly justified from the project's short lifespan) and the lack of mutation frequency information. The ETHNOS-based NEMDBs, namely the Hellenic [Patrinos et al, 2005b], Cypriot, Iranian [Kleanthous et al, 2006], Lebanese [Megarbane et al, 2006], and Serbian National Mutation Frequency Databases, report the frequencies of mutant alleles responsible for several inherited disorders in those populations. In addition to compiled information on each disorder (the gene involved, diagnosis, and treatment), mutation frequency data are provided, accompanied by links to OMIM and LSDBs where possible (Supplementary Figure S1).…”

Institutional Profile: Golden Helix Institute of Biomedical Research: Interdisciplinary Research and Educational Activities in Pharmacogenomics and Personalized Medicine

“…Also, the GHI developed ETHNOS, an off-the-shelf bioinformatics suite to facilitate development and curation of National/Ethnic Genetic and Mutation frequency databases [3]. This software has enabled the development of a number of these resources in various populations, such as Greek [4], Cypriot, Iranian [5], Lebanese, Israeli [6], and Egyptian. Also, based on the same concept, FINDbase [103], a worldwide database to record frequencies of causative mutations and pharmacogenetic markers, has been developed [7].…”