Cooper David N, Stenson Peter D, Chuzhanova Nadia A
Cardiff University, Cardiff, United Kingdom.
Curr Protoc Bioinformatics. 2006 Jan;Chapter 1:Unit 1.13. doi: 10.1002/0471250953.bi0113s12.
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.
人类基因突变数据库（HGMD）构成了一个关于人类遗传性疾病相关核基因种系突变数据的综合核心集合（http://www.hgmd.org）。编目的数据包括编码区、调控区和剪接相关区域的单碱基对替换、微缺失和微插入、插入缺失、三联体重复扩增，以及大片段基因缺失、插入、重复和复杂重排。每个突变仅在HGMD中录入一次，以避免复发性病变和同源性相同病变之间的混淆。到2005年6月，该数据库包含在2029个不同核基因中检测到的超过53000种不同病变，目前新条目每年以超过5000条的速度积累。HGMD包括cDNA参考序列（目前已为90%以上列出的基因提供）、剪接位点数据、疾病相关和功能多态性，以及与公开可用的在线位点特异性突变数据库中数据的链接。
