Semantic Approaches to Phenotypic Databases Analyses

表型数据库分析的语义方法

• 批准号: 6769171
• 负责人: Yves A. Lussier
• 金额: $ 15.56万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-05-01 至 2007-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6769171
• 关键词: Internet; automated data processing; cancer information system; computer graphics /printing; computer human interaction; computer simulation; computer system design /evaluation; genetic registry /resource /referral center; molecular biology information system; phenotype; semantics; systematic biology; vocabulary development for information system

The long-term goal of this project is to build innovative informatics tools, capable of automatically querying and organizing phenotypic data (traits, syndromes, etc.) across Phenotype databases, to facilitate phenotypic research that aims to unlock the gene-disease-relationships. While genomic research at the molecular level (genes and proteins) has been intensively pursued, little progress has been made in functional genomics research, especially phenotypic research. However, there will soon be a pressing demand for greater integration of medicine and biology, and for related innovative informatics tools to facilitate research requiring phenotypic data. One limiting factor that significantly hinders the progress of phenotypic research is the lack of timely access to relevant phenotypes across databases. This application proposes to adopt a multidisciplinary approach (informatics, genomics and biomedical research) to explore the value of semantic, probabilistic and terminological technologies in phenotypic data and knowledge processing. The project focuses on the research and development of the Phenotype Organizer System (POS), a system designed to automate the processes of integration, organization and visualization of phenotypic data and knowledge. The hypotheses to be explored in this project are 1) a Phenotype Organizer System can be developed to effectively handle phenotypic data and knowledge from cancer and Model Organism System Databases, and 2) POS, by using the contextual knowledge of term usage (semantic, terminological and probabilistic) can improve the incorporation and organization of phenotypic information from distinct databases. Specific aims to test these hypotheses are: (i) to model and map the terminological components of various phenotypic databases using extended semantic networks; (ii) to create a knowledge base containing the contextual properties of the terminological components; and (iii) to develop the Web-enabled Phenotype Organizer System based on aims (i) and (ii). The proposed research may provide a unique approach to accelerate biomedical research by improving access to phenotypic data and knowledge processing - the Semantic Phenome (phenotypic-genomic relations). Further, results from these studies may yield innovative biomedical informatics tools that could be highly valuable for interdisciplinary mining of genomic, proteomic and clinical databases.

该项目的长期目标是建立创新的信息学工具，能够自动查询和组织表型数据库中的表型数据（性状、综合征等），以促进旨在解锁基因-疾病关系的表型研究。虽然在分子水平（基因和蛋白质）上的基因组研究已经得到了广泛的追求，但在功能基因组学的研究，特别是表型研究方面进展甚微。然而，迫切需要医学和生物学的更大整合，以及相关的创新信息学工具，以促进需要表型的研究