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.