The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

被引：1047

作者：

Stenson, Peter D. ^{[1
]}

Mort, Matthew ^{[1
]}

Ball, Edward V. ^{[1
]}

Shaw, Katy ^{[1
]}

Phillips, Andrew D. ^{[1
]}

Cooper, David N. ^{[1
]}

机构：

[1] Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

来源：

HUMAN GENETICS | 2014年 / 133卷 / 01期

关键词：

INCIDENTAL FINDINGS; DISEASE; VARIANTS; EXOME; CANCER; INDIVIDUALS; INHERITANCE; PENETRANCE; SEQUENCE; INSIGHTS;

D O I：

10.1007/s00439-013-1358-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Human Gene Mutation Database (HGMD(A (R))) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.

引用

页码：1 / 9

页数：9

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