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

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 diff...

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Published inHuman genetics Vol. 139; no. 10; pp. 1197 - 1207
Main Authors Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D., Cooper, David N.
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2020
Springer
Springer Nature B.V
Subjects
Biomedical and Life Sciences
Biomedicine
Diagnostic equipment (Medical)
Gene Function
Gene mutations
Genes
Hereditary diseases
Human Genetics
Medical colleges
Metabolic Diseases
Molecular Medicine
Mutation
Point mutation
Review
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Summary: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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ISSN:0340-6717
1432-1203
1432-1203
DOI:10.1007/s00439-020-02199-3