Human Gene Mutation Database—A biomedical information and research resource

Although 20 years have elapsed since the first single basepair substitution underlying an inherited disease in humans was characterised at the DNA level, the initiative has only recently been taken to establish central database resources for pathological genetic variants. Disease‐associated gene lesions are currently collected and publicised by the Human Gene Mutation Database ( HGMD ) in Cardiff, locus‐specific mutation databases, and to some extent also by the Genome Database ( GDB ) and Online Mendelian Inheritance in Man ( OMIM ). To date, HGMD represents the only comprehensive and publicly available database of gene lesions underlying human inherited disease. By July 1999, HGMD contained over 18,000 different mutations from some 900 human genes, the majority being single basepair substitutions. In addition to its potential as an information resource for clinicians and genetic counsellors, HGMD has allowed molecular geneticists to address a variety of biological questions through meta‐analysis of the collated data. HGMD also promises to assist research workers in optimising mutation search strategies for a given gene. A questionnaire sent out to, and answered by, the editors of 20 key journals revealed that human genetics journals are increasingly reluctant to publish mutation reports. Electronic data submission and publication facilities are therefore urgently required. The World Wide Web (WWW) provides an excellent medium within which to combine the centralised management of basic mutation data, including rigorous quality control, with the possibility of publishing additional mutation‐related information. In response to these needs, HGMD has both instituted a collaboration with Springer‐Verlag GmbH, Heidelberg, to potentiate free online submission and electronic publication of human gene mutation data and developed links with the curators of locus‐specific mutation databases. Hum Mutat 15:45–51, 2000. © 2000 Wiley‐Liss, Inc.