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Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the
George P Patrinos1, Sjozef van Baal, Michael B Petersen
1Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands. g.patrinos@erasmusmc.nl
Human Mutation
|March 19, 2005
Summary
A new online database catalogs genetic mutations causing inherited disorders in the Hellenic population. This resource enhances molecular diagnostics and promotes research into genetic diseases within Greece.
Area of Science:
- Genetics
- Bioinformatics
- Medical Databases
Background:
- Increasing discovery of genomic alterations necessitates population-specific mutation data.
- Comparative studies require comprehensive mutation frequency information across diverse populations.
- Existing resources may lack detailed data on specific ethnic groups, like the Hellenic population.
Purpose of the Study:
- To construct the Hellenic National Mutation database, a prototype for cataloging inherited disorders in the Hellenic population.
- To provide high-quality, up-to-date information on genetic heterogeneity within this population.
- To facilitate molecular diagnosis and further research on genetic diseases in Greece.
Main Methods:
- Development of a multicenter academic initiative to build the database.
- Inclusion of disorder summaries, incidence data specific to Greece, and reference lists.
- Implementation of a query interface for easy access to mutation information.
- Integration of links to Online Mendelian Inheritance in Man (OMIM) and locus-specific databases.
Main Results:
- The Hellenic National Mutation database is now available online.
- The database contains information on genetic disorders and their mutations in the Hellenic population.
- It offers a user-friendly interface with links to external genetic resources.
Conclusions:
- The Hellenic National Mutation database facilitates molecular diagnosis of inherited disorders in Greece.
- It serves as a valuable resource for researchers investigating genetic diseases in the Hellenic population.
- The database design supports easy data entry and curation for future updates.