1. Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases
- Author
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Roberta A Pagon, Thomas R. O'Brien, Paolo Boffetta, Ryan P. Owen, Paolo Vineis, Muin J. Khoury, Jonine L. Bernstein, Julian P T Higgins, Adam S. Butterworth, A. Cecile J.W. Janssens, Daniela Seminara, Timothy R. Rebbeck, Helena Furberg, Lars Bertram, Stephen J. Chanock, Marta Gwinn, Siobhan M. Dolan, Anand Chockalingam, James M. Ostell, Harry Campbell, Deborah M. Winn, Julian Little, Isabel Fortier, Montserrat Garcia-Closas, Nathaniel Rothman, John P. A. Ioannidis, Paul Burton, Wei Yu, Khoury, M.J., Bertram, L., Boffetta, P., Butterworth, A.S., Chanock, S.J., Dolan, S.M., Fortier, I., Garcia-Closas, M., Gwinn, M., Higgins, J.P.T., Janssens, A.C.J.W., Ostell, J., Owen, R.P., Pagon, R.A., Rebbeck, T.R., Rothman, N., Bernstein, J.L., Burton, P.R., Campbell, H., Chockalingam, A., Furberg, H., Little, J., O'Brien, T.R., Seminara, D., Vineis, P., Winn, D.M., Yu, W., Ioannidis, J.P.A., and Epidemiology
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human diseases ,Candidate gene ,Pathology ,Schizophrenia/genetics ,Epidemiology ,epidemiologic methods ,Genome-wide association study ,Pilot Projects ,Disease ,Epidemiologic Methods ,0302 clinical medicine ,Medicine ,Genome-Wide Association Study ,Genome-wide ,database ,0303 health sciences ,synopse ,Genetic Variation ,field ,3. Good health ,Phenotype ,030220 oncology & carcinogenesis ,Meta-analysis ,Bias (Epidemiology) ,Practice Guidelines as Topic ,Disease Susceptibility ,medicine.medical_specialty ,Evidence-based practice ,Georgia ,Genomics ,Computational biology ,association studie ,03 medical and health sciences ,Special Article ,SDG 3 - Good Health and Well-being ,Meta-Analysis as Topic ,genomics ,Humans ,Genetic Predisposition to Disease ,030304 developmental biology ,genome-wide association study ,business.industry ,Genome, Human ,association ,Bayes Theorem ,meta-analysis ,genetic variation ,Disease/*genetics ,Human genome ,Interdisciplinary Communication ,Knowledge Bases ,encyclopedias ,genome, human ,business ,Candidate Disease Gene - Abstract
Genome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new loci associated with susceptibility to common complex diseases. Integrating the evidence from GWAS and candidate gene studies depends on concerted efforts in data production, online publication, database development, and continuously updated data synthesis. Here the authors summarize current experience and challenges on these fronts, which were discussed at a 2008 multidisciplinary workshop sponsored by the Human Genome Epidemiology Network. Comprehensive field synopses that integrate many reported gene-disease associations have been systematically developed for several fields, including Alzheimer's disease, schizophrenia, bladder cancer, coronary heart disease, preterm birth, and DNA repair genes in various cancers. The authors summarize insights from these field synopses and discuss remaining unresolved issues - especially in the light of evidence from GWAS, for which they summarize empirical P-value and effect-size data on 223 discovered associations for binary outcomes (142 with P
- Published
- 2009
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