Patrinos George P, Brookes Anthony J
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.
Trends Genet. 2005 Jun;21(6):333-8. doi: 10.1016/j.tig.2005.04.004.
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.
疾病遗传学和基因组相关医学领域近来取得了重大进展,产生了海量数据。然而,在收集和整理这些数据以便有效利用方面,却没有相应的足够的数据库项目与之匹配。该研究领域十分复杂,涉及核心数据库、基因座特异性数据库、国家突变数据库、基因型-表型数据库和患者数据库——要开发并妥善整合这些多样的资源,仍有大量工作要做。为推动这一进程,我们适时地对该领域进行了综述,强调其至关重要性,并讨论了迄今所取得的极为不足的进展。诸多因素导致了这一缓慢进展(例如技术障碍、发表要求、目光短浅且迎合大众的研究体系)。缺乏针对性的资金支持可以说是最根本的问题,但这一问题是可以解决的。