Introduction to HGMD®
The Human Gene Mutation Database (HGMD®) represents a comprehensive collection of germ-line mutations in nuclear genes, underlying or associated with human inherited disease. This database was originally established for the study of mutational mechanisms in human genes but has now acquired a much broader utility in that it embodies an up-to-date and comprehensive reference source to the spectrum of inherited human gene lesions.
HGMD records all germ-line disease-causing mutations and disease-associated/functional polymorphisms reported in the literature, and provides these data in a readily accessible format to all interested parties, whether they are from an academic, clinical or commercial background. HGMD now constitutes, de facto, the central disease-associated mutation database available to the scientific community. The data comprise single base-pair substitutions in coding (e.g. missense and nonsense), regulatory and splicing-relevant regions of human nuclear genes, micro-deletions and micro-insertions, indels, repeat expansions, as well as gross gene lesions (deletions, insertions and duplications) and complex gene rearrangements.
HGMD is freely available to registered academic/non-profit users via the internet at http://www.hgmd.org. Mutation data are currently made available on this public website 3 years after initial inclusion in the database. An up-to-date subscription version of HGMD (HGMD Professional) is however available to both commercial and academic customers via license from BIOBASE GmbH, our commercial partner. In addition to up-to-date mutation data, HGMD Professional also features advanced search tools and gene- and mutation-specific information not available on the public site. HGMD Professional is updated every 3 months.
Stenson et al. (2017) The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665-677. doi: 10.1007/s00439-017-1779-6 [PubMed]
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