Potamias George, Lakiotaki Kleanthi, Katsila Theodora, Lee Ming Ta Michael, Topouzis Stavros, Cooper David N, Patrinos George P
Institute of Computer Science, Foundation for Research and Technology Hellas, Crete, Greece.
Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.
Open Biol. 2014 Jul;4(7). doi: 10.1098/rsob.140071.
In the post-genomic era, the rapid evolution of high-throughput genotyping technologies and the increased pace of production of genetic research data are continually prompting the development of appropriate informatics tools, systems and databases as we attempt to cope with the flood of incoming genetic information. Alongside new technologies that serve to enhance data connectivity, emerging information systems should contribute to the creation of a powerful knowledge environment for genotype-to-phenotype information in the context of translational medicine. In the area of pharmacogenomics and personalized medicine, it has become evident that database applications providing important information on the occurrence and consequences of gene variants involved in pharmacokinetics, pharmacodynamics, drug efficacy and drug toxicity will become an integral tool for researchers and medical practitioners alike. At the same time, two fundamental issues are inextricably linked to current developments, namely data sharing and data protection. Here, we discuss high-throughput and next-generation sequencing technology and its impact on pharmacogenomics research. In addition, we present advances and challenges in the field of pharmacogenomics information systems which have in turn triggered the development of an integrated electronic 'pharmacogenomics assistant'. The system is designed to provide personalized drug recommendations based on linked genotype-to-phenotype pharmacogenomics data, as well as to support biomedical researchers in the identification of pharmacogenomics-related gene variants. The provisioned services are tuned in the framework of a single-access pharmacogenomics portal.
在后基因组时代,高通量基因分型技术的迅速发展以及遗传研究数据产出速度的加快,不断促使我们在试图应对海量传入遗传信息时开发合适的信息学工具、系统和数据库。除了有助于增强数据连通性的新技术外,新兴信息系统应有助于在转化医学背景下为从基因型到表型的信息创建一个强大的知识环境。在药物基因组学和个性化医疗领域,提供有关参与药代动力学、药效学、药物疗效和药物毒性的基因变异的发生情况及后果的重要信息的数据库应用,已显然将成为研究人员和医学从业者不可或缺的工具。与此同时,两个基本问题与当前的发展紧密相连,即数据共享和数据保护。在此,我们讨论高通量和新一代测序技术及其对药物基因组学研究的影响。此外,我们介绍药物基因组学信息系统领域的进展和挑战,这些进展和挑战反过来又推动了集成电子“药物基因组学助手”的开发。该系统旨在基于关联的从基因型到表型的药物基因组学数据提供个性化药物推荐,并支持生物医学研究人员识别与药物基因组学相关的基因变异。所提供的服务在单入口药物基因组学门户的框架内进行调整。