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Review
. 2017 Jun;136(6):665-677.
doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D Stenson  1 , Matthew Mort  2 , Edward V Ball  2 , Katy Evans  2 , Matthew Hayden  2 , Sally Heywood  2 , Michelle Hussain  2 , Andrew D Phillips  2 , David N Cooper  3
Affiliations
Review

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D Stenson et al. Hum Genet. 2017 Jun.

Abstract

The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD ( http://www.hgmd.org ) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.

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Conflict of interest statement

The authors wish to declare an interest in so far as HGMD is financially supported by QIAGEN Inc. through a License agreement with Cardiff University.

Figures

Fig. 1
Fig. 1
Annual numbers of cited literature references added to HGMD. *2017 figures not yet complete
Fig. 2
Fig. 2
Annual mutation totals subdivided by variant class. *2017 figures not yet complete
Fig. 3
Fig. 3
Example of an HGMD Professional entry
Fig. 4
Fig. 4
Overview of UMLS high-level disease concept mappings present in HGMD
See this image and copyright information in PMC

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