the human gene mutation database 2008 update2008年人类基因突变数据库更新.pdfVIP

Correspondence TThhee HHuummaann GGeennee MMuuttaattiioonn DDaattaabbaassee::uuppddaattee Peter D Stenson, Matthew Mort, Edward V Ball, Katy Howells, Andrew D Phillips, Nick ST Thomas and David N Cooper Address: Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. Correspondence: David N Cooper. Email: cooperdn@cardiff.ac.uk Published: 22 January 2009 Genome Medicine 2009, 11:: 13 (doi:10.1186/gm13) The electronic version of this article is the complete one and can be found online at /content/1/1/13 © 2009 Stenson et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. AAbbssttrraacctt ®® 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