The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

• Published in: Human genetics Vol. 133; no. 1; pp. 1 - 9
• Main Authors: Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2014; Springer; Springer Nature B.V
• Subjects: Bioinformatics; Biological products; Biomedical and Life Sciences; Biomedicine; Cell Nucleus - genetics; Computational Biology; Databases, Genetic; Diagnostic tests; DNA Copy Number Variations; Gene Function; Gene mutations; Genes; Genetic Predisposition to Disease; Genetic Testing; Genetics; Genome, Human; Genomes; Genomics; Germ-Line Mutation; Human Genetics; Humans; Metabolic Diseases; Molecular Medicine; Mutation; Polymorphism, Genetic; Precision Medicine; Review Paper; Mutation Data; Unify Medical Language System; Human Gene Mutation Database; Variant Call Format; Human Phenotype Ontology
• ISSN: 0340-6717; 1432-1203; 1432-1203
• DOI: 10.1007/s00439-013-1358-4

The Human Gene Mutation Database (HGMD ® ) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD ( http://www.hgmd.org ) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.