RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA.
Am J Prev Med. 2011 May;40(5 Suppl 2):S144-50. doi: 10.1016/j.amepre.2011.01.018.
For the potential power of genome-wide association studies (GWAS) and translational medicine to be realized, the biomedical research community must adopt standard measures, vocabularies, and systems to establish an extensible biomedical cyberinfrastructure. Incorporating standard measures will greatly facilitate combining and comparing studies via meta-analysis. Incorporating consensus-based and well-established measures into various studies should reduce the variability across studies due to attributes of measurement, making findings across studies more comparable. This article describes two well-established consensus-based approaches to identifying standard measures and systems: PhenX (consensus measures for phenotypes and eXposures), and the Open Geospatial Consortium (OGC). NIH support for these efforts has produced the PhenX Toolkit, an assembled catalog of standard measures for use in GWAS and other large-scale genomic research efforts, and the RTI Spatial Impact Factor Database (SIFD), a comprehensive repository of geo-referenced variables and extensive meta-data that conforms to OGC standards. The need for coordinated development of cyberinfrastructure to support measures and systems that enhance collaboration and data interoperability is clear; this paper includes a discussion of standard protocols for ensuring data compatibility and interoperability. Adopting a cyberinfrastructure that includes standard measures and vocabularies, and open-source systems architecture, such as the two well-established systems discussed here, will enhance the potential of future biomedical and translational research. Establishing and maintaining the cyberinfrastructure will require a fundamental change in the way researchers think about study design, collaboration, and data storage and analysis.
为了实现全基因组关联研究(GWAS)和转化医学的潜在力量,生物医学研究界必须采用标准措施、词汇和系统,以建立可扩展的生物医学网络基础设施。采用标准措施将极大地促进通过荟萃分析来组合和比较研究。在各种研究中纳入基于共识和成熟的措施,应减少由于测量属性导致的研究之间的变异性,使研究结果更具可比性。本文介绍了两种成熟的基于共识的方法,用于确定标准措施和系统:PhenX(表型和暴露的共识措施)和开放地理空间联盟(OGC)。NIH 对这些工作的支持产生了 PhenX 工具包,这是一个用于 GWAS 和其他大规模基因组研究的标准措施汇编目录,以及 RTI 空间影响因素数据库(SIFD),这是一个符合 OGC 标准的地理参考变量和广泛元数据的综合存储库。显然,需要协调开发网络基础设施,以支持增强协作和数据互操作性的措施和系统;本文包括讨论确保数据兼容性和互操作性的标准协议。采用包括标准措施和词汇的网络基础设施,以及开源系统架构,如这里讨论的两个成熟系统,将增强未来生物医学和转化研究的潜力。建立和维护网络基础设施将需要研究人员在研究设计、协作以及数据存储和分析方面的思维方式发生根本性变化。