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

• Published in: Human 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
• Language: English
• 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

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...