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

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D. and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp. 1197-1207. 10.1007/s00439-020-02199-3

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Springer
ISSN:	0340-6717
Funders:	HGMD
Date of First Compliant Deposit:	7 July 2020
Date of Acceptance:	19 June 2020
Last Modified:	26 Dec 2023 14:12
URI:	https://orca.cardiff.ac.uk/id/eprint/133186

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