Human Gene Mutation Database(HGMD)是一个整合了己知和已发表导致人类遗传性疾病基因突变的综合性数据库,能够为医学和临床遗传学人员提供重要的参考信息,在单基因遗传病研究、产前诊断和生殖遗传中广泛使用。截至2022年第二季度发布的版本,HGMD数据库已经收录了超过36万个变异,并且每个季度进行更新。这样庞大且持续更新...
HGMD®: Human Gene Mutation Database Solve more cases faster, with data you can trust Introduction The human gene mutation database (HGMD®) represents an up-to-date and comprehensive collection of known and published pathogenic gene lesions responsible for human inherited disease. HGMD is a ...
HGMD专业版,可以直接获取到所有变异位点对应的致病性(DM)、可能致病性(DM?)级别分析,快速筛选相关变异,指导Gene Panel的设计和验证。 详细的变异信息 HGMD专业版可以获取到支持该位点的文献信息,包括primary literature和supporting literature,以及与该生物学功能相关的其它基因信息。这些信息可以帮助研究者确定该变异位点对...
HGMD专业版,可以直接获取到所有变异位点对应的致病性(DM)、可能致病性(DM?)级别分析,快速筛选相关变异,指导Gene Panel的设计和验证。 滑动查看更多 详细的变异信息 HGMD专业版可以获取到支持该位点的文献信息,包括primary literature和supporting lite...
The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline mutations in nuclear genes underlying human inherited disease. By June 1998, the database contained in excess of 13,500 different lesions in a total of 766 different genes, with new ...
HumanGeneMutationDatabase(HGMD®)HumanGeneMutationDatabase(HGMD®)Theonlycomprehensivesourceofdataonhumaninheriteddisease-associatedmutationsComprehensivesourceofmutationdata•Focusonpeer-reviewedscientificliterature•Experimentalresultsareextractedbyhighlytrainedgeneticexperts•Contentisupdated4xperyearHGMD®advantage...
The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene...
mutation英 [mjuːˈteɪʃn] 美 [mjuːˈteɪʃn] 释义n. [遗] 突变;变化;元音变化 例句But researchers suspect a mutation in one gene allows some people to skip the process of forming fingerprints during development. 但是研究者猜想有一个基因突变使得有些人在生长过程中跳过指纹的形...
HGMD The Human Gene Mutation Database - BIOBASE:迄今为止人类基因突变数据库BIOBASE 热度: cnv analysis and mutation screening indicate an important role for the npy4r gene in human obesity.cnv分析和npy4r基因突变筛查表明一个重要的角色在人类肥 ...
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 (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-relevant...