The Epilepsy Phenome/Genome Project (EPGP) informatics platform
The Epilepsy Phenome/Genome Project (EPGP) informatics platform
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DOI：
10.1016/j.ijmedinf.2012.03.004
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发表时间：
2013-04-01
影响因子：
4.9
通讯作者：
Williams, Michael
中科院分区：
文献类型：
--
作者：
Nesbitt, Gerry;McKenna, Kevin;Williams, Michael
背景资料：癫痫表型组/基因组计划（EPGP）是一个大规模的，多机构的，协作网络的27个癫痫中心在整个美国。美国，澳大利亚和阿根廷，目的是收集大量癫痫患者的详细表型和遗传数据。EPGP的目标是（1）对3750名患有特定形式非获得性癫痫的参与者和1500名无癫痫的父母进行详细的表型分析，（2）获得这些个体的DNA样本，（3）最终对样本进行基因分型，以发现导致癫痫的新基因。为了实施该项目，需要一个可靠和强大的信息学平台，用于标准化的电子数据收集和存储、数据质量审查以及涉及多个地点病例的表型分析。EPGP开发了自己的一套基于网络的信息学应用程序，用于参与者跟踪、电子数据收集（使用电子病例报告表/调查）、数据管理、表型数据审查和验证、样本跟踪、脑电图和神经成像存储以及问题跟踪。我们实施的程序，以培训和支持最终用户在每个clinical site.Results：到目前为止，3780研究参与者已被招募和20,957基于网络的研究活动已经完成使用这个信息平台。超过95%的最终用户满意度调查的受访者认为，信息平台是成功的几乎总是或大部分的time.Conclusions：EPGP信息平台已成功和有效地允许研究管理和高效可靠的表型数据收集。我们的新型信息学平台满足了大型多中心研究项目的要求。该平台已获得主要研究者和研究协调员的高度最终用户认可，并可作为新工具的模型，以支持未来收集广泛表型数据的大规模合作研究项目。(C)2012爱思唯尔爱尔兰有限公司保留所有权利。
Background: The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, multi-institutional, collaborative network of 27 epilepsy centers throughout the U. S., Australia, and Argentina, with the objective of collecting detailed phenotypic and genetic data on a large number of epilepsy participants. The goals of EPGP are (1) to perform detailed phenotyping on 3750 participants with specific forms of non-acquired epilepsy and 1500 parents without epilepsy, (2) to obtain DNA samples on these individuals, and (3) to ultimately genotype the samples in order to discover novel genes that cause epilepsy. To carry out the project, a reliable and robust informatics platform was needed for standardized electronic data collection and storage, data quality review, and phenotypic analysis involving cases from multiple sites.Methods: EPGP developed its own suite of web-based informatics applications for participant tracking, electronic data collection (using electronic case report forms/surveys), data management, phenotypic data review and validation, specimen tracking, electroencephalograph and neuroimaging storage, and issue tracking. We implemented procedures to train and support end-users at each clinical site.Results: Thus far, 3780 study participants have been enrolled and 20,957 web-based study activities have been completed using this informatics platform. Over 95% of respondents to an end-user satisfaction survey felt that the informatics platform was successful almost always or most of the time.Conclusions: The EPGP informatics platform has successfully and effectively allowed study management and efficient and reliable collection of phenotypic data. Our novel informatics platform met the requirements of a large, multicenter research project. The platform has had a high level of end-user acceptance by principal investigators and study coordinators, and can serve as a model for new tools to support future large scale, collaborative research projects collecting extensive phenotypic data. (C) 2012 Elsevier Ireland Ltd. All rights reserved.