In This Issue
KMD: A country-specific genetic variation resource for Korea
Article first published online: 12 MAR 2012
© 2012 Wiley Periodicals, Inc.
Special Issue: Focus on the NIH Undiagnosed Diseases Program
Volume 33, Issue 4, page v, April 2012
How to Cite
Smith,, T. D. (2012), KMD: A country-specific genetic variation resource for Korea. Hum. Mutat., 33: v. doi: 10.1002/humu.22573
- Issue published online: 12 MAR 2012
- Article first published online: 12 MAR 2012
The collection and curation of genetic variation information by gene and/or disease has been going on for a number of years. The last published count of locus-specific databases puts the number at around 1800. However, the collection of variant information by population in country- or ethnic-specific databases is a far less advanced activity. While all genetic variation data collection activities should be applauded as they contribute to the global pool of knowledge, and particularly, support the diagnostic process in genetic testing laboratories, access to country-specific data has a number of unique benefits. Such data allow the more common mutations in particular populations to be discovered, which can in turn lead to cheaper and faster diagnostic testing (‘hot-spot’ testing as opposed to complete gene sequencing), not just in the country hosting the database, but also in countries with large immigrant populations. Further, access can allow for a more accurate assessment of the burden of genetic disease within the country, useful for health policy planning and implementation. It is for these reasons that country-specific database are a key tenet of the Human Variome Project's (http://www.humanvariomeproject.org/) Global Collection Architecture.
In this issue, Park et al. (Hum Mutat 33:E2332–E2340, 2012) describe the construction, composition and characteristics of the Korean Mutation Database (KMD), a national genetic variation database containing information on 1,645 mutations across 245 genes and 475 diseases. Of particular note is the inclusion of data sourced directly from diagnostic laboratories and published in local Korean journals. Without the KMD, the information on these mutations would be virtually inaccessible to the international research and clinical community. The database is freely accessible to the public with greater access granted to registered users. The software behind the database is available for non-commercial use by other groups wanting to start a national collection.