Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population

Hum Mutat. 2005 Apr;25(4):327-33. doi: 10.1002/humu.20157.


The exponential discovery rate of new genomic alterations, leading to inherited disorders, as well as the need for comparative studies of different population's mutation frequencies necessitates recording their population-wide spectrum in online mutation databases. We report the construction of the Hellenic National Mutation database (http://www.goldenhelix.org/hellenic), a prototype database derived from a multicenter academic initiative, aiming to provide high quality and up-to-date information on the underlying genetic heterogeneity of inherited disorders found in the Hellenic population. Database records include informative summaries of the various genetic disorders studied in the Hellenic population, focused in particular on their incidence in Greece, a comprehensive reference list, and a well-structured query interface, which provides easy access to the list of the different mutations responsible for the inherited disorders in the Hellenic population. Also, extensive links to the respective Online Mendelian Inheritance in Man (OMIM) entries and, when available, to the locus-specific databases are provided, so that the user can retrieve the maximum amount of information from a single website. Furthermore, the Hellenic National Mutation database design allows easy data entry and curation. Creation of the Hellenic National Mutation database will significantly facilitate molecular diagnosis of inherited disorders in Greece and will motivate further investigation of yet unknown genetic diseases in the Hellenic population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / methods
  • Databases, Genetic*
  • Genetic Diseases, Inborn*
  • Genetic Predisposition to Disease*
  • Greece
  • Humans
  • Internet
  • Mutation*