The challenge of documenting mutation across the genome: the human genome variation society approach.

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 Unpublished made their way into Locus Specific Databases (LSDBs), these can often contain many unpublished ones, addition other detailed gene-specific information.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