Building a Biomedical Cyberinfrastructure for Collaborative Research

Abstract

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, which is a means for deriving larger populations, needed for increased statistical power to detect less apparent and more complex associations (gene-environment interactions and polygenic gene-gene interactions). 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 consensus-based approaches to establishing standard measures and systems: PhenX (consensus measures for Phenotypes and eXposures), and the Open Geospatial Consortium (OGC). National Institutes of Health 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 georeferenced variables and extensive metadata that conforms to OGC standards. The need for coordinated development of cyberinfrastructure to support collaboration and data interoperability is clear, and we discuss standard protocols for ensuring data compatibility and interoperability. Adopting a cyberinfrastructure that includes standard measures, vocabularies, and open-source systems architecture 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.