DNA, diseases and databases: disastrously deficient

摘要: Recent progress in disease genetics and genome-related medicine has been substantial, with vast amounts of data being generated. However, this not matched by adequate database projects that gather organize these to enable their useful exploitation. This research area is complex, entailing core databases, locus-specific national mutation genotype–phenotype databases patient – much work required develop properly integrate various resources. To promote this, we present a timely overview the field, emphasize its over-riding importance discuss disastrously deficient made so far. Many factors contribute slow (e.g. technological hurdles, publication requirements, short-sighted popularist system). A lack targeted funding arguably most fundamental problem, but one can be solved.