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Review
. 2020 Oct;139(10):1197-1207.
doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28.

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Peter D Stenson  1 , Matthew Mort  2 , Edward V Ball  2 , Molly Chapman  2 , Katy Evans  2 , Luisa Azevedo  2   3 , Matthew Hayden  2 , Sally Heywood  2 , David S Millar  2 , Andrew D Phillips  2 , David N Cooper  2
Affiliations
Review

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Peter D Stenson et al. Hum Genet. 2020 Oct.

Abstract

The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 different gene lesions identified in over 11,100 genes manually curated from 72,987 articles published in over 3100 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians. This review aims to highlight how to make the most out of HGMD data in each setting.

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Conflict of interest statement

The authors wish to declare an interest insofar as HGMD is financially supported by Qiagen Inc. through a License agreement with Cardiff University.

Figures

Fig. 1
Fig. 1
Mutation totals by year of publication subdivided by variant class. *Figures for 2019 and 2020 not yet complete. DM disease-causing mutation, DM? Likely disease-causing, but with questionable pathogenicity
Fig. 2
Fig. 2
Top 20 journals by number of mutation entries (HGMD Professional release 2020.2 June 7th 2020) in relation to both primary and additional (secondary) references
Fig. 3
Fig. 3
Example, online batch result set from HGMD Professional 2020.2
Fig. 4
Fig. 4
Example of an NGS/diagnostic workflow
Fig. 5
Fig. 5
HGMD vs ClinVar vs OMIM comparison (as of March 2020)
See this image and copyright information in PMC

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