人类基因突变数据库：2008 年更新。
The Human Gene Mutation Database: 2008 update.
机构信息
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
出版信息
Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13.
The Human Gene Mutation Database (HGMD((R))) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize the history of the database and its current resources. By December 2008, the database contained over 85,000 different lesions detected in 3,253 different genes, with new entries currently accumulating at a rate exceeding 9,000 per annum. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics. HGMD was first made publicly available in April 1996, and a collaboration was initiated in 2006 between HGMD and BIOBASE GmbH. This cooperative agreement covers the exclusive worldwide marketing of the most up-to-date (subscription) version of HGMD, HGMD Professional, to academic, clinical and commercial users.
人类基因突变数据库（HGMD((R))) 是一个综合的核基因突变核心库，这些突变是导致或与人类遗传疾病相关的。在这里，我们总结了数据库的历史及其当前的资源。截至 2008 年 12 月，该数据库包含超过 85000 种不同的病变，这些病变存在于 3253 种不同的基因中，目前每年新增条目超过 9000 个。尽管最初是为了研究人类基因突变的机制而建立的，但 HGMD 现在已经被研究人员、医生、临床医生和遗传咨询师以及专门从事生物制药、生物信息学和个性化基因组学的公司广泛使用。HGMD 于 1996 年 4 月首次公开，HGMD 与 BIOBASE GmbH 于 2006 年启动了合作。该合作协议涵盖了 HGMD Professional 这一最新（订阅）版本的全球独家营销，面向学术、临床和商业用户。
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