Description
HGMD constitutes a comprehensive core collection of data on germ-line mutations underlying or associated with human inherited disease. Based in the Institute of Medical Genetics and managed by Peter Stenson and his staff of four, this unique database currently contains information on the nature, location and sequence context of some 60,000 different mutational lesions in more than 2230 human genes. It also provides data on gene names and symbols, chromosomal locations and original literature references. Integration with phenotypic, structural and mapping information has also been made possible by the provision of links to a variety of web-based resources. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility to researchers, physicians, clinicians and genetic counsellors. It was therefore made publicly available in April 1996 at http://www.hgmd.org. The database can be used to search for newly identified gene lesions to determine whether or not they are novel. It can also be searched on a gene-wise basis to obtain an overview of the known mutational spectrum for a given gene. Additionally, it can be searched for other examples of a specific type of mutation in a specific location in order to garner evidence for the pathological authenticity of a given lesion. Although more than 90% of HGMD data are in the public domain, the newly signed agreement allows BIOBASE a 12 month period of exclusive access to new information added to HGMD.