title: Human Gene Mutation Database (HGMD): 2003 update.
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 (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.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: Peter D
authors.initials: PD
authors.lastname: Stenson
authors.forename: Edward V
authors.initials: EV
authors.lastname: Ball
authors.forename: Matthew
authors.initials: M
authors.lastname: Mort
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Phillips
authors.forename: Jacqueline A
authors.initials: JA
authors.lastname: Shiel
authors.forename: Nick S T
authors.initials: NS
authors.lastname: Thomas
authors.forename: Shaun
authors.initials: S
authors.lastname: Abeysinghe
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D030541:Databases, Genetic; D005796:Genes / Q000235:genetics*; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D020407:Internet; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D013997:Time Factors