title: DNA, diseases and databases: disastrously deficient.
abstract: Recent progress in disease genetics and genome-related medicine has been substantial, with vast amounts of data being generated. However, this progress has not been matched by adequate database projects that gather and organize these data to enable their useful exploitation. This research area is complex, entailing core databases, locus-specific databases, national mutation databases, genotype-phenotype databases and patient databases--and much work is required to develop and properly integrate these various resources. To promote this, we present a timely overview of the field, emphasize its over-riding importance and discuss the disastrously deficient progress made so far. Many factors contribute to this slow progress (e.g. technological hurdles, publication requirements, the short-sighted and popularist research system). A lack of targeted funding is arguably the most fundamental problem, but one that can be solved.
authors.affiliation: Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, PO Box 1738, 3000 DR Rotterdam, The Netherlands. g.patrinos@erasmusmc.nl
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Brookes
mesh_terms: D016208:Databases, Factual / Q000639:trends*; D030541:Databases, Genetic / Q000639:trends; D004194:Disease / Q000145:classification*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype