Chapter 1.3: The Human Gene Mutation Database (HGMD)
Abstract
The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (http://www.hgmd.org). Data catalogued include single bp substitutions in coding, regulatory, and splicing-relevant regions, microdeletions and microinsertions, indels, and triplet repeat expansions, as well as gross gene deletions, insertions, duplications, and complex rearrangements. Each mutation is entered into HGMD only once in order to avoid confusion between recurrent and identical-by-descent lesions. By January 2005, the database contained more than 50,100 different lesions detected in 1959 different nuclear genes, with new entries currently accumulating at a rate in excess of 5000 per annum.
Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 90% of the listed genes, splice junction data, and disease-associated and functional polymorphisms, and links to data present in publicly available online locus-specific mutation databases (LSDBs). Although HGMD currently has a licensing agreement with Celera Genomics (Rockville, MD), mutation data will continue to be made freely available via the Internet.
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