Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Jan;133(1):1-9.
doi: 10.1007/s00439-013-1358-4.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Peter D Stenson, Matthew Mort, Edward V Ball, Katy Shaw, Andrew Phillips, David N Cooper
Review

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Peter D Stenson et al. Hum Genet. 2014 Jan.

Abstract

The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
5,734 genes are listed in HGMD professional 2013.2, subdivided here by variant class
Fig. 2
Fig. 2
HGMD annual mutation totals subdivided by variant class. *2013 figures to June 28th
Fig. 3
Fig. 3
Advanced nucleotide substitutions search in HGMD Professional
See this image and copyright information in PMC

References

    1. 1000 Genomes Project Consortium. Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061–1073. doi: 10.1038/nature09534. - DOI - PMC - PubMed
    1. 1000 Genomes Project Consortium. Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56–65. doi: 10.1038/nature11632. - DOI - PMC - PubMed
    1. Amberger J, Bocchini CA, Scott AF, Hamosh A. McKusick’s Online mendelian inheritance in man (OMIM) Nucleic Acids Res. 2009;37:D793–D796. doi: 10.1093/nar/gkn665. - DOI - PMC - PubMed
    1. Andreasen C, Refsgaard L, Nielsen JB, Sajadieh A, Winkel BG, Tfelt-Hansen J, Haunsø S, Holst AG, Svendsen JH, Olesen MS. Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. Can J Cardiol. 2013;29(9):1104–1109. doi: 10.1016/j.cjca.2012.12.002. - DOI - PubMed
    1. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3:65ra4. doi: 10.1126/scitranslmed.3001756. - DOI - PMC - PubMed

Publication types