The Human Gene Mutation Database: 2008 update

Stenson, Peter Daniel, Mort, Matthew, Ball, Edward, Howells, Katy, Phillips, Andrew David, Thomas, Nick and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1 (1) , 13. 10.1186/gm13

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Abstract

The Human Gene Mutation Database (HGMD®) 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Additional Information:	This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Publisher:	BioMed Central
ISSN:	1756-994X
Date of First Compliant Deposit:	30 March 2016
Last Modified:	21 Jun 2023 16:56
URI:	https://orca.cardiff.ac.uk/id/eprint/84090

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