Time for a Unified System of Mutation Description and Reporting: A Review of Locus-Specific Mutation Databases

摘要: Mutation databases of human genes are assuming an increasing importance in all areas health care. In addition, more and experts the mutations diseases particular curating published unpublished locus-specific (LSDB). These contain such extensive information that they have become known as knowledge bases. We analyzed these their content between June 21, 2001, July 18, 2001. were able to access 94 independent websites devoted documentation mutation containing 262 LSDBs for study. one LSDB from each (i.e., LSDBs) presence or absence 80 criteria, generally gene a multigene website documented same criteria. No criterion studied gave unanimous agreement every database. Twenty-two represented by than LSDB. The number recorded, excluding p53, was 23,822 with 1518 polymorphisms. Fifty-four percent easy use 11% hard follow; 73% displayed through HTML. Three found given high score ease wealth content. Thus, study provided strong case uniformity data make maximally useful. this direction, hypothetical ideal derived. also derived community structure would enhance chances capture rather being left patient's report. hope interested granting bodies will assist achieving vision public system collects displays variants discovered.