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Human Gene Mutation Database (HGMD®): 2003 update

✍ Scribed by Peter D. Stenson; Edward V. Ball; Matthew Mort; Andrew D. Phillips; Jacqueline A. Shiel; Nick S.T. Thomas; Shaun Abeysinghe; Michael Krawczak; David N. Cooper

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
112 KB
Volume
21
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross 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 March 2003, the database contained in excess of 39,415 different lesions detected in 1,516 different nuclear genes, with new entries currently accumulating at a rate exceeding 5,000 per annum. Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 87% of listed genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific mutation databases. Although HGMD has recently entered into a licensing agreement with Celera Genomics (Rockville, MD), mutation data will continue to be made freely available via the Internet.

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