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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-01

AUTHORS

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

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. More... »

PAGES

1-9

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-013-1358-4

    DOI

    http://dx.doi.org/10.1007/s00439-013-1358-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1001440472

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24077912


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