title: 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-to-use 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.
authors.affiliation: The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Social Welfare and Rehabilitation Sciences University, Tehran, Iran.
authors.forename: Marina
authors.initials: M
authors.lastname: Kleanthous
authors.forename: Philippos C
authors.initials: PC
authors.lastname: Patsalis
authors.forename: Anthi
authors.initials: A
authors.lastname: Drousiotou
authors.forename: Mehdi
authors.initials: M
authors.lastname: Motazacker
authors.forename: Kyproula
authors.initials: K
authors.lastname: Christodoulou
authors.forename: Marios
authors.initials: M
authors.lastname: Cariolou
authors.forename: Erol
authors.initials: E
authors.lastname: Baysal
authors.forename: Kimia
authors.initials: K
authors.lastname: Khrizi
authors.forename: Babak
authors.initials: B
authors.lastname: Moghimi
authors.forename: Farzin
authors.initials: F
authors.lastname: Pourfarzad
authors.forename: Sjozef
authors.initials: S
authors.lastname: van Baal
authors.forename: Constantinos
authors.initials: C
authors.lastname: Deltas
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D003535:Cyprus / Q000453:epidemiology; D030541:Databases, Genetic; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005820:Genetic Testing; D005828:Genetics, Population; D007492:Iran / Q000453:epidemiology; D009154:Mutation