Stenson Peter D, Ball Edward V, Mort Matthew, Phillips Andrew D, Shaw Katy, Cooper David N
Cardiff University, Cardiff, United Kingdom.
Curr Protoc Bioinformatics. 2012 Sep;Chapter 1:1.13.1-1.13.20. doi: 10.1002/0471250953.bi0113s39.
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, micro-deletions and micro-insertions, 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 March 2012, the database contained in excess of 123,600 different lesions (HGMD Professional release 2012.1) detected in 4,514 different nuclear genes, with new entries currently accumulating at a rate in excess of 10,000 per annum. ∼6,000 of these entries constitute disease-associated and functional polymorphisms. HGMD also includes cDNA reference sequences for more than 98% of the listed genes.
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的全面核心数据集（http://www.hgmd.org）。编入目录的数据包括编码区、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。每个突变仅录入HGMD一次，以避免反复出现的病变和同源相同病变之间的混淆。截至2012年3月，该数据库包含在4514个不同核基因中检测到的超过123,600种不同病变（HGMD专业版2012.1），目前新条目每年以超过10,000条的速度积累。其中约6000条条目构成疾病相关和功能性多态性。HGMD还包括所列基因中98%以上的cDNA参考序列。
