The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.

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, micro-deletions micro-insertions, 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 March 2012, the database contained excess 123,600 different lesions (HGMD Professional release 2012.1) detected 4,514 genes, new entries currently accumulating at rate 10,000 per annum. ~6,000 these constitute disease-associated functional polymorphisms. also includes cDNA reference sequences for more than 98% listed genes.