HGMD®: An essential tool in analyzing the genomes of James D. Watson and J. Craig Venter. Now celebrating our 100,000 mutation milestone!
For a brief overview of the scope and features of HGMD® Professional, please watch the short video below. If you're interested in a more detailed walk through of the features of the HGMD® Professional interface, please watch the full feature video accessible here.
HGMD® - Human Gene Mutation Database
HGMD represents the only comprehensive collection of data available on germ-line mutations in nuclear genes underlying or associated with human inherited disease.
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 particular type of mutation in a specific location in order to garner evidence for the pathological authenticity of a given lesion. Example results from the HGMD Advanced Search feature are available.
HGMD currently includes information on the nature, location and sequence context of lesions in human nuclear genes and provides data on gene names and symbols, chromosomal locations and original literature references.
Integration with phenotypic, structural and mapping information has been made possible by the provision of links to a variety of web-based resources including OMIM, Entrez Gene and the Human Gene Nomenclature Committee.
Learn more about the benefits of an HGMD professional subscription.
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To inquire about trials for HGMD Professional, or for an introductory tour through the database, please contact our sales team.
HGMD is a registered trademark of Cardiff University. It was founded by Profs. David N. Cooper and Michael Krawczak in 1996.
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