Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases. Export

@article{citeulike:4940769, 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 < 10(-7)). They also present a vision of collaboration that builds reliable cumulative evidence for genetic associations with common complex diseases and a transparent, distributed, authoritative knowledge base on genetic variation and human health. As a next step in the evolution of Human Genome Epidemiology reviews, the authors invite investigators to submit field synopses for possible publication in the American Journal of Epidemiology.}, author = {Khoury, Muin J. and Bertram, Lars and Boffetta, Paolo and Butterworth, Adam S. and Chanock, Stephen J. and Dolan, Siobhan M. and Fortier, Isabel and Garcia-Closas, Montserrat and Gwinn, Marta and Higgins, Julian P. and Janssens, A. Cecile and Ostell, James and Owen, Ryan P. and Pagon, Roberta A. and Rebbeck, Timothy R. and Rothman, Nathaniel and Bernstein, Jonine L. and Burton, Paul R. and Campbell, Harry and Chockalingam, Anand and Furberg, Helena and Little, Julian and O'Brien, Thomas R. and Seminara, Daniela and Vineis, Paolo and Winn, Deborah M. and Yu, Wei and Ioannidis, John P.}, citeulike-article-id = {4940769}, citeulike-linkout-0 = {http://dx.doi.org/10.1093/aje/kwp119}, citeulike-linkout-1 = {http://aje.oxfordjournals.org/cgi/content/abstract/170/3/269}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/19498075}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=19498075}, day = {1}, doi = {10.1093/aje/kwp119}, issn = {1476-6256}, journal = {American journal of epidemiology}, keywords = {assoc, highly, humgen, meta-analysis, mining, silico}, month = {August}, number = {3}, pages = {269--279}, posted-at = {2009-07-06 17:10:13}, priority = {2}, title = {Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.}, url = {http://dx.doi.org/10.1093/aje/kwp119}, volume = {170}, year = {2009} }

TY - JOUR ID - citeulike:4940769 L3 - citeulike-article-id:4940769 N2 - 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 < 10(-7)). They also present a vision of collaboration that builds reliable cumulative evidence for genetic associations with common complex diseases and a transparent, distributed, authoritative knowledge base on genetic variation and human health. As a next step in the evolution of Human Genome Epidemiology reviews, the authors invite investigators to submit field synopses for possible publication in the American Journal of Epidemiology. IS - 3 JF - American journal of epidemiology SN - 1476-6256 EP - 279 TI - Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases. VL - 170 SP - 269 KW - assoc KW - highly KW - humgen KW - meta-analysis KW - mining KW - silico AU - Khoury, Muin AU - Bertram, Lars AU - Boffetta, Paolo AU - Butterworth, Adam AU - Chanock, Stephen AU - Dolan, Siobhan AU - Fortier, Isabel AU - Garcia-Closas, Montserrat AU - Gwinn, Marta AU - Higgins, Julian AU - Janssens, Cecile AU - Ostell, James AU - Owen, Ryan AU - Pagon, Roberta AU - Rebbeck, Timothy AU - Rothman, Nathaniel AU - Bernstein, Jonine AU - Burton, Paul AU - Campbell, Harry AU - Chockalingam, Anand AU - Furberg, Helena AU - Little, Julian AU - O'Brien, Thomas AU - Seminara, Daniela AU - Vineis, Paolo AU - Winn, Deborah AU - Yu, Wei AU - Ioannidis, John PY - 2009/08/01/ UR - http://dx.doi.org/10.1093/aje/kwp119 ER -