User:Katy Howells/HGMD
 | This is not a Wikipedia article: It is an individual user's work-in-progress page, and may be incomplete and/or unreliable. For guidance on developing this draft, see Wikipedia:So you made a userspace draft. Find sources: Google (books · news · scholar · free images · WP refs) · FENS · JSTOR · TWL |
HGMD (Human Gene Mutation Database) is a manually curated database containing germline mutations in nuclear genes that underlie, or are associated with, human inherited disease.
Introduction[edit]
The Human Gene Mutation Database was created in 1987 at Cardiff University by David N. Cooper, a biologist, and Michael Krawczak, a mathematician. Its original aim was to collate all of the germline single base substitutions, microinsertions and microdeletions in coding and splice regions of human nuclear genes, in order to study the mutational mechanisms causing human inherited disease.
In 1996, the database was expanded to include gross lesions, indels and regulatory mutations. The curators also decided to include the cDNA reference sequences of the genes, in order to ensure the quality of the mutation data. The database was made publicly available online as 'HGMD' in April of that year. In 1999, HGMD also began to include disease-associated polymorphisms.
In order to secure the long-term funding of the database, HGMD entered in to a collaboration with Celera Genomics in 2000. The licensing agreement allowed Celera's customers exclusive access to the newest information in HGMD for a period of a year. A public version of the database was still available via the Cardiff website with the one-year delay for new data.
In 2005 the Celera contract came to an end and in 2006 HGMD entered in to a collaboration with BIOBASE which remains in place to this day.