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 lev el, the initiative has only recently been taken to establish central databa se resources for pathological genetic variants. Disease associated gene les ions are currently collected and publicised by the Human Gene Mutation Data base (HGMD) in Cardiff, locus-specific mutation databases, and to some exte nt also by the Genome Database (GDB) and Online Mendelian Inheritance in Ma n (OMIM). To date, HGMD represents the only comprehensive and publicly avai lable database of gene lesions underlying human inherited disease. By July 1999, HGMD contained over 18,000 different mutations from some 900 human ge nes, the majority being single basepair substitutions. In addition to its p otential 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 giv en gene. A questionnaire sent out to, and answered by, the editors of 20 ke y journals revealed that human genetics journals are increasingly reluctant to publish mutation reports. Electronic data submission and publication fa cilities 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 possibili ty of publishing additional mutation-related information. In response to th ese needs, HGMD has both instituted a collaboration with Springer-Verlag Gm bH, Heidelberg, to potentiate free online submission and electronic publica tion of human gene mutation data and developed links with the curators of l ocus-specific mutation databases. Hum Mutat 15:45-51, 2000. (C) 2000 Wiley- Liss, Inc.