Development of a densely genotyped Population Reference Sample (POPRES): a resource for population, disease, and pharmacological genetics research. M.R. Nelson¹, M. Klotsman¹, A.M. McNeill², Y. Maruyama¹, C.E. Bowman¹, D. Morris², M.E. Ehm¹, E.H. Lai¹. 1) Genetics Research, GlaxoSmithKline, Research Triangle Park, NC; 2) Medicine Development Centers, GlaxoSmithKline, Research Triangle Park, NC.
   Recent technologic and scientific advances, stemming in large part from the Human Genome and HapMap projects, have made large-scale, genome-wide investigations feasible and cost-effective. These advances have the potential to dramatically impact drug discovery and development by identifying genetic factors that contribute to variation in disease risk as well as drug pharmacokinetics, treatment efficacy, and adverse drug reactions. In spite of the technological advancements, successful application in biomedical research would be limited without access to suitable sample collections. To facilitate exploratory genetic research, we are developing an extensive DNA resource collected from a large number of participants, sampled throughout the world. This nascent sample resource is being initially genotyped using a commercially available genome-wide 500,000 SNP panel. This project currently includes over 2500 subjects of Mexican, Chinese, Japanese, European, and Indian Asian origin. Approximately 2,500 additional samples that are broadly representative of the global population will be ascertained and genotyped. As the genotypic data from these samples are assembled, they will be made publicly available for use by the wider genetics community. To further develop such a public resource, we welcome the opportunity to work with academic, non-profit, and industry partners to populate this resource with representative and genetically diverse collections, while maintaining the highest ethical standards. Here we present the goals and design of this collection, a summary of the samples and data currently available, as well as initial exemplary applications in the study of the genetic basis of adverse drug reactions.