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中文摘要
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描述(申请人提供):高通量实验方法极大地促进了生物医学研究。微阵列分析、全基因组关联研究(GWAS)、深度测序和脑成像等方法减少了数据生成和收集的瓶颈。然而,理解高通量数据的生物学意义是一个主要挑战。正如博塔和斯旺森所指出的那样,现在“无论多么聪明的研究者,都远远无法记住、评估和综合神经科学文献,即使是在网络结构、生理学或化学等有限的领域。”我们认为,问题的一个关键部分是在现有文献和数据的背景下,基于高通量实验数据绘制高维函数关系的支持不足。流行的搜索解决方案,如PubMed/ b谷歌Scholar,主要是为了高效地检索最相关的信息而设计的,而不是为了探索性的假设发展。这些解决方案缺乏我们提出的系统将提供的几个关键功能,通过旨在假设发展的文献和数据库探索来理解高通量数据生物学所需的功能:
英文摘要
DESCRIPTION (provided by applicant): High throughput experimental methods have accelerated biomedical research dramatically. Approaches such as microarray analysis, genome-wide association studies (GWAS), deep sequencing and brain imaging reduce bottlenecks in data generation and collection. Understanding the biological significance of high throughput data, however, is a major challenge 1. As pointed out by Bota and Swanson, it is now "far beyond the grasp of individual investigators, no matter how brilliant, to remember, evaluate, and synthesize the neuroscience literature, even in restricted domains like network structure, physiology, or chemistry" 2. We argue that a key part of the problem is insufficient support for drawing high dimensional functional relationships based on high throughput experimental data in the context of existing literature and data. Prevailing search solutions, such as PubMed/Google Scholar, are mainly designed for retrieving the most relevant information efficiently but not for explorative hypothesis development. These solutions lack several key functionalities that our proposed system will provide, functionalities required for understanding the biology of high throughput data through literature and database explorations that aim at hypothesis development: Overview of Medline search results in familiar biological contexts to facilitate exploration: Presenting the search results in graphic overviews reflecting inherent biological relationships of the retrieved records will be more effective than a linear list of potentially relevant records alone. Such overviews, ideally from multiple biological contexts, should also support efficient interactive exploration of attribute data and pattern associations for deriving non-obvious relationships from multiple perspectives. Query support for different algorithms, biological entities and data sources: One retrieval algorithm will not fit all situations. Biological entities such as gene IDs and genomic locations need to be supported for Medline queries. The Medline database needs to be supplemented by external data sources such as ontology, pathway, and various databases containing curated information derived from experimental data. Open architecture for third party plug-ins and cross-application function integration: The support of third party data and function plug-ins are needed to enhance the functionality and the adaptation of a solution. Open architecture will enable the use of intermediate data and/or functions from other solutions. Incorporating these functions, we propose to develop a system called PubViz that will more effectively support neurobiologists' needs for developing hypotheses on molecular mechanisms underlying major mental disorders through integrated exploration of literature and data related to high throughput experimental results. We will also conduct systematic needs assessments and user tests to ensure that functions we develop match users' needs effectively. Building on our existing component function prototypes, PubViz will provide a query and analysis environment that exceeds other systems in helping scientists work toward formulating hypotheses. It will integrate Medline search results with data and information from external resources and situate relationships visually and interactively in multiple biological contexts that are useful and usable. Creating these combined innovations and human-computer interface (HCI) designs is non-trivial but is feasible given our pilot work and experience in visual Medline exploration solution development, data analysis and integration and usability and usefulness studies. Additionally, focusing this project on neurobiology and mental disorders, a research domain in which we have extensive experience will help us address critical user needs and functionalities more effectively. Moreover, the solution we develop should be adaptable to other biomedical research domains.
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Interactive Medline Search Engine Integrating External Information
Interactive Medline Search Engine Integrating External Information
NOVEL MICROARRAY FOR SNP AND METHYLATION DETECTION
NOVEL MICROARRAY FOR SNP AND METHYLATION DETECTION
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