Establishing the PhenX Toolkit as a Biomedical Knowledgebase

项目摘要/摘要 PhenX(表型和暴露的共识措施)的目标是为调查人员提供 标准测量方案(例如，问卷、生物测定、物理测量)，以改善 数据收集的质量和一致性，并增加个别研究的影响。随着时间的推移，这 共同货币将使调查人员能够更容易地结合研究，以增加统计能力和 比较研究以验证研究结果。启用对共享数据的分析应有助于更好地理解 人类疾病的病因、进展和治疗，最终导致患者的改善 护理、健康结果和生活质量。为此，PhenX建立了一个免费的、基于Web的 目录(用于基因组、临床、 人类参与者的翻译和流行病学研究。PhenX工具包内容和 功能是由科学界驱动的。PhenX指导委员会(SC)提供 指南和PhenX工具包中的每个测量方案由以下工作组(WG)选择 专家们使用一种基于共识的过程，依赖于科学界的投入。最初 PhenX工具包发布于2009年，目前包括874个针对人类表型和 曝光。在接下来的5年里，PhenX将扩展工具包的广度和深度，增加实用性，并 努力提高对资源的认识。具体目标是：(1)评审、更新和扩展 PhenX工具包的内容；(2)利用生物医学标准提高PhenX工具包的科学影响力； 以及(3)提高人们对PhenX工具包的认识和采用程度。这项研究计划将建立 PhenX工具包作为组织、积累和注释标准的可持续知识库 协议，并将它们链接到相关资源和数据。这项计划反映了多管齐下的方法， 将确保PhenX工具包的价值和影响随着时间的推移而不断增加。

PROJECT SUMMARY/ABSTRACT The goal of PhenX (consensus measures for Phenotypes and eXposures) is to provide investigators with standard measurement protocols (e.g., questionnaires, bioassays, physical measurements) to improve the quality and consistency of data collection and increase the impact of individual studies. Over time, this common currency will enable investigators to more easily combine studies to increase statistical power and compare studies to validate findings. Enabling analysis of shared data should lead to a better understanding of the etiology, progression, and treatment of human disease, ultimately leading to improvements in patient care, health outcomes and quality of life. To this end, PhenX has established a freely available, Web-based catalog (https://www.phenxtoolkit.org/) of measurement protocols intended for use in genomic, clinical, translational, and epidemiological research with human participants. The PhenX Toolkit content and features are driven by the scientific community. The PhenX Steering Committee (SC) provides overarching guidance and each measurement protocol in the PhenX Toolkit is selected by a Working Group (WG) of experts using a consensus-based process that relies on input from the scientific community. Initially released in 2009, the PhenX Toolkit currently includes 874 protocols addressing human phenotypes and exposures. In the next 5 years, PhenX will expand the breadth and depth of the Toolkit, increase utility, and strive to increase awareness of the resource. The Specific Aims are to (1) review, update, and expand PhenX Toolkit content; (2) leverage biomedical standards to increase scientific impact of PhenX Toolkit; and (3) raise awareness and increase adoption of the PhenX Toolkit. This research plan will establish the PhenX Toolkit as a sustainable knowledgebase that organizes, accumulates, and annotates standard protocols and links them to relevant resources and data. This plan, which reflects a multipronged approach, will ensure that the value and impact of the PhenX Toolkit will continue to increase over time.