Our goal in developing Phenopedia and Genopedia was to provide researchers with quick and easy access to updated information on human genetic association studies, in order to facilitate knowledge synthesis, which is the first step in translating new knowledge gained from basic research to applications for clinical practice and public health (Khoury et al., 2007). With these applications, we do not attempt to quantify specific genotype–phenotype associations; instead, we provide a starting point for systematic review and evaluation of associations by meta-analysis or other methods (Ioannidis et al., 2008). Phenopedia and Genopedia serve as resources for the development of field synopses, which are regularly updated summaries of genetic associations in a particular field of research defined by a phenotype or family of genes (Khoury et al., 2009). Our database differs in several key respects from the Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db1/4OMIM) database, which focuses on rare disease-causing genetic variants and has only recently begun to include more common diseases. Our database systematically collects population-based genetic association studies dealing with common diseases, regardless of whether they report positive findings.
