For the Mutation Detection 2003 Special Issue
The challenge of documenting mutation across the genome: The human genome variation society approach†
Article first published online: 19 MAR 2004
Copyright © 2004 Wiley-Liss, Inc.
Volume 23, Issue 5, pages 447–452, May 2004
How to Cite
Horaitis, O. and Cotton, R. G. H. (2004), The challenge of documenting mutation across the genome: The human genome variation society approach. Hum. Mutat., 23: 447–452. doi: 10.1002/humu.20038
- Issue published online: 19 MAR 2004
- Article first published online: 19 MAR 2004
- mutation detection;
New methods for the detection of mutations and the completion of the human genome sequencing project have contributed to an exponential rise in variation information that must be collected, quality controlled, documented, and stored safely to ensure future availability to health care professionals, researchers, and others. There may be anywhere from one to more than 1,000 mutations in any given gene. To date, this information has been collected by general databases such as Online Mendelian Inheritance in Man (OMIM) or the Human Gene Mutation Database (HGMD), which collect only published mutations and, in the case of OMIM, selected published mutations. Unpublished mutations have made their way into Locus Specific Databases (LSDBs), and these can often contain as many unpublished mutations as published ones, in addition to other more detailed gene-specific information. LSDBs, however, do not exist for all genes at this time. Through their interactions, a number of members of the Human Genome Variation Society (HGVS) have developed nomenclature, standard software to curate mutations in gene specific databases, a WayStation to collect and review new mutations from research and diagnostic laboratories, and central databases to store and display these mutations and their associated phenotypes. Nomenclature is now well defined for the commonest types of mutation, with work continuing on systematically naming the more complex types. Other projects, such as dedicated specialized software for LSDBs, are in the early stages of development. Hum Mutat 23:447–452, 2004. © 2004 Wiley-Liss, Inc.