Millburn Gillian H, Crosby Madeline A, Gramates L Sian, Tweedie Susan
Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK
The Biological Laboratories, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA.
Dis Model Mech. 2016 Mar;9(3):245-52. doi: 10.1242/dmm.023317.
The use of Drosophila melanogaster as a model for studying human disease is well established, reflected by the steady increase in both the number and proportion of fly papers describing human disease models in recent years. In this article, we highlight recent efforts to improve the availability and accessibility of the disease model information in FlyBase (http://flybase.org), the model organism database for Drosophila. FlyBase has recently introduced Human Disease Model Reports, each of which presents background information on a specific disease, a tabulation of related disease subtypes, and summaries of experimental data and results using fruit flies. Integrated presentations of relevant data and reagents described in other sections of FlyBase are incorporated into these reports, which are specifically designed to be accessible to non-fly researchers in order to promote collaboration across model organism communities working in translational science. Another key component of disease model information in FlyBase is that data are collected in a consistent format --- using the evolving Disease Ontology (an open-source standardized ontology for human-disease-associated biomedical data) - to allow robust and intuitive searches. To facilitate this, FlyBase has developed a dedicated tool for querying and navigating relevant data, which include mutations that model a disease and any associated interacting modifiers. In this article, we describe how data related to fly models of human disease are presented in individual Gene Reports and in the Human Disease Model Reports. Finally, we discuss search strategies and new query tools that are available to access the disease model data in FlyBase.
将黑腹果蝇用作研究人类疾病的模型已得到充分确立,这一点从近年来描述人类疾病模型的果蝇相关论文数量及其所占比例的稳步增长中可见一斑。在本文中,我们重点介绍了近期为提高果蝇模式生物数据库FlyBase(http://flybase.org)中疾病模型信息的可用性和可获取性所做的努力。FlyBase最近推出了人类疾病模型报告,每份报告都提供了特定疾病的背景信息、相关疾病亚型的列表,以及使用果蝇进行实验的数据和结果总结。FlyBase其他部分所描述的相关数据和试剂的综合展示也被纳入这些报告中,这些报告经过专门设计,便于非果蝇研究人员获取,以促进从事转化科学研究的模式生物群落之间的合作。FlyBase中疾病模型信息的另一个关键组成部分是,数据以一致的格式收集——使用不断发展的疾病本体(一种用于人类疾病相关生物医学数据的开源标准化本体)——以实现强大而直观的搜索。为便于操作,FlyBase开发了一个用于查询和浏览相关数据的专用工具,这些数据包括模拟疾病的突变以及任何相关的相互作用修饰因子。在本文中,我们描述了与人类疾病果蝇模型相关的数据在各个基因报告和人类疾病模型报告中是如何呈现的。最后,我们讨论了可用于访问FlyBase中疾病模型数据的搜索策略和新的查询工具。