Nucleic Acids Research, Vol 26, Issue 1 285-287, Copyright © 1998 by Oxford University Press
DN Cooper, EV Ball and M Krawczak
The Human Gene Mutation Database (HGMD) represents a comprehensive core
collection of data on published germline mutations in nuclear genes
underlying human inherited disease. By September 1997, the database
contained nearly 12 000 different lesions in a total of 636 different
genes, with new entries currently accumulating at a rate of over 2000 per
annum. Although originally established for the scientific study of
mutational mechanisms in human genes, HGMD has acquired a much broader
utility to researchers, physicians and genetic counsellors so that it was
made publicly available at http://uwcm.ac.uk/uwcm/mg/hgmd0.html in April
1996. Mutation data in HGMD are accessible on the basis of every gene being
allocated one web page per mutation type, if data of that type are present.
Meaningful integration with phenotypic, structural and mapping information
has been accomplished through bi-directional links between HGMD and both
the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM),
Baltimore, USA. Hypertext links have also been established to Medline
abstracts through Entrez , and to a collection of 458 reference cDNA
sequences also used for data checking. Being both comprehensive and fully
integrated into the existing bioinformatics structures relevant to human
genetics, HGMD has established itself as the central core database of
inherited human gene mutations.
ARTICLES
The human gene mutation database
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK. cooperdn@cardiff.ac.uk
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