PhenoNet: Distributed Repositories for Phenotypic Data

描述(由申请人提供)：该项目的目标是调查定制表型数据存储库平台(PhenoNet)的技术可行性和商业潜力，该平台鼓励采用表型数据标准和跨来源交流知识。 今天的表型数据收集产生了大量的异质数据，在系统化或吞吐量方面还不能与基因组研究中的类似努力相匹配。弗雷默和萨巴蒂最近提出的人类表现组计划将需要“巨大的协调努力，以获得功能强大、标准化和全面的表型数据库”(2003)。PhenoNet将由个人研究人员或实验室使用，并将为用户提供管理项目、输入数据、跟踪进度和创建复杂查询的工具。然而，该系统的真正意义将是使用户能够定义他们的数据集并将其映射到公认的表型数据标准，然后通过这些标准共享和整合数据集。该平台将通过简化数据集设计过程，促进提高表型数据收集的准确性和吞吐量，并提供对数据收集过程的详细审计和跟踪，从而加快进行研究的速度。该系统将提供增强的存储、操作和共享表型数据的能力。 一个附属的PhenoNet“注册表”将作为具有符合标准的数据集的调查人员的中央目录，使研究人员能够找到合作者，并根据与公认标准的共同映射整合不同的数据。通过这样做，PhenoNet将通过促进以目前复杂得令人望而却步的方式对详细的表型数据集进行数据挖掘，从而实现新颖的研究设计。通过以这些新的方式检查数据，研究人员将能够对所表达的特征进行更细粒度的描述，从而在研究遗传或环境对疾病的影响时能够进行更有效的分析，以及改进和更好地了解疾病表型。第一阶段将包括分析和设计该系统的所有主要组成部分，以及建造和评价精神病学和神经学研究领域的原型系统。

DESCRIPTION (provided by applicant): The goal of this project is to investigate the technical feasibility and commercial potential of a platform (PhenoNet) for custom phenotypic data repositories that encourages adoption of phenotypic data standards and exchange of knowledge across sources. Phenotypic data collection today generates large quantities of heterogeneous data and it does not yet match the analogous efforts in genomic research in terms systematization or throughput. Freimer and Sabbati's recently proposed Human Phenome Project will require "an enormous coordinated effort, to obtain phenomic databases that are powerful, standardized, and comprehensive" (2003). PhenoNet will be used by individual investigators or laboratories and will provide users with tools to administer projects, enter data, track progress, and create complex queries. The true significance of the system, however, will be in enabling users to define and map their datasets to accepted standards for phenotypic data, and then share and integrate datasets via these standards. The platform will increase the pace at which research can occur by streamlining the dataset design process, facilitating increased accuracy and throughput in phenotypic data collection, and providing detailed auditing and tracking of the data collection processes. The system will provide an enhanced ability to store, manipulate, and share phenotypic data. An adjunct PhenoNet "Registry" will serve as a centralized directory of investigators with standards compliant datasets, enabling researchers to find collaborators and integrate disparate data based on common mapping to accepted standards. In doing so, PhenoNet will allow for novel research designs by facilitating data mining of detailed phenotypic datasets in ways that are currently prohibitively complex. By examining data in these new ways, investigators will be able to produce more granular characterizations of expressed traits that can lead to more effective analysis when studying genetic or environmental influences on disease as well as refinement and better understanding of disease phenotypes. Phase I will include analysis and design of all major components of the system as well as construction and evaluation of a prototype system in the field of psychiatric and neurological research.