title: The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.
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 cataloged include single base-pair 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 June 2005, the database contained in excess of 53,000 different lesions detected in 2029 different nuclear genes, with new entries currently accumulating at a rate in excess of 5000 per annum. HGMD includes cDNA reference sequences, now provided for more than 90% of the listed genes, splice junction data, disease-associated and functional polymorphisms, and links to data present in publicly available online locus-specific mutation databases.
authors.affiliation: Cardiff University, Cardiff, United Kingdom.
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
authors.forename: Peter D
authors.initials: PD
authors.lastname: Stenson
authors.forename: Nadia A
authors.initials: NA
authors.lastname: Chuzhanova
mesh_terms: D001483:Base Sequence; D003196:Computer Graphics; D004252:DNA Mutational Analysis / Q000379:methods*; D003628:Database Management Systems; D030541:Databases, Genetic; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D016247:Information Storage and Retrieval; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*; D014584:User-Computer Interface