The human gene mutation database: 2008 update

Abstract

The Human Gene Mutation Database (HGMD®) is a comprehensive core collection of germlinemutations 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, thedatabase contained over 85,000 different lesions detected in 3,253 ifferent 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. © 2009 BioMed Central Ltd.