UMD manual - May 2009 version

Contributed by:	Acacia Reiche
Originally posted:	15th July 2009: 2:42 pm
Last updated:	20th July 2009: 10:04 am
Short URL:	http://gen2phen.org/node/2544

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Brief decription of this documentThe human genome contains about 40,000 genes and presently only 3,000 are known to be implicated in genetic diseases. In the near future, the entire sequence of the human genome (Human Genome Project) will be available and the development of new methods for point mutation detection will lead to a huge increase in the identification of genes and their mutations associated with genetic diseases as well as cancers. The collection of these mutations will be critical for researchers and clinicians to establish genotype/phenotype correlations. Other fields such as molecular epidemiology will also be developed using these new data. Consequently, the future lies not in simple repositories of locus-specific mutations but in dynamic databases linked to various computerized tools for their analysis and that can be directly queried on-line. To meet this goal, we devised a generic software called UMD (Universal Mutation Database). More recent versions may be available at http://www.umd.be/

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