The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.

摘要: 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 coding, regulatory, and splicing-relevant regions, microdeletions microinsertions, indels, triplet repeat expansions, as well gross gene deletions, insertions, duplications, complex rearrangements. Each mutation is entered into HGMD only once, order to avoid confusion between recurrent identical-by-descent lesions. By June 2005, the database contained excess 53,000 different lesions detected 2029 genes, new entries currently accumulating at rate 5000 per annum. includes cDNA reference sequences, now provided for more than 90% listed splice junction data, disease-associated functional polymorphisms, links present publicly available online locus-specific databases.