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PMID: 19348700 Published · epublish English Journal Article

The Human Gene Mutation Database: 2008 update.

Genome medicine ·Vol. 1 ·No. 1 ·2009-01-22 ·Pages 13

Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN

Abstract

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.

Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Stenson Peter D
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
Mort Matthew
Ball Edward V
Howells Katy
Phillips Andrew D
Thomas Nick St
Cooper David N
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Article Info
Journal
Genome medicine
Abbr.
Genome Med
ISSN
1756-994X
DOI
10.1186/gm13
Published
2009-01-22
Epub
2009-00-22
Pages
13
Language
English
Region
England
NLM ID
101475844
PMCID
PMC2651586
External Links
PubMed source DOI: 10.1186/gm13 PMC Full Text View journal details
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