Sabb F W, Bearden C E, Glahn D C, Parker D S, Freimer N, Bilder R M
Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90095-1759, USA.
Mol Psychiatry. 2008 Apr;13(4):350-60. doi: 10.1038/sj.mp.4002124. Epub 2008 Jan 8.
The human genome project has stimulated development of impressive repositories of biological knowledge at the genomic level and new knowledge bases are rapidly being developed in a 'bottom-up' fashion. In contrast, higher-level phenomics knowledge bases are underdeveloped, particularly with respect to the complex neuropsychiatric syndrome, symptom, cognitive, and neural systems phenotypes widely acknowledged as critical to advance molecular psychiatry research. This gap limits informatics strategies that could improve both the mining and representation of relevant knowledge, and help prioritize phenotypes for new research. Most existing structured knowledge bases also engage a limited set of contributors, and thus fail to leverage recent developments in social collaborative knowledge-building. We developed a collaborative annotation database to enable representation and sharing of empirical information about phenotypes important to neuropsychiatric research (www.Phenowiki.org). As a proof of concept, we focused on findings relevant to 'cognitive control', a neurocognitive construct considered important to multiple neuropsychiatric syndromes. Currently this knowledge base tabulates empirical findings about heritabilities and measurement properties of specific cognitive task and rating scale indicators (n=449 observations). It is hoped that this new open resource can serve as a starting point that enables broadly collaborative knowledge-building, and help investigators select and prioritize endophenotypes for translational research.
人类基因组计划推动了基因组层面令人瞩目的生物知识库的发展,新的知识库正以“自下而上”的方式迅速建立。相比之下,更高层次的表型组学知识库发展不足,尤其是在复杂的神经精神综合征、症状、认知和神经系统表型方面,这些表型被广泛认为对推进分子精神病学研究至关重要。这一差距限制了信息学策略,而这些策略本可改善相关知识的挖掘和呈现,并有助于为新研究确定表型的优先级。大多数现有的结构化知识库也只有有限的贡献者群体,因此未能利用社会协作知识构建方面的最新进展。我们开发了一个协作注释数据库,以实现对神经精神研究重要的表型的实证信息的呈现和共享(www.Phenowiki.org)。作为概念验证,我们重点关注与“认知控制”相关的研究结果,“认知控制”是一种对多种神经精神综合征都很重要的神经认知结构。目前,这个知识库将特定认知任务和评分量表指标的遗传力和测量属性的实证研究结果制成表格(n = 449项观察)。希望这个新的开放资源能够成为一个起点,促进广泛的协作知识构建,并帮助研究人员为转化研究选择内表型并确定其优先级。