Reporting and interpretation in genome-wide association studies
Open Access
- 11 February 2008
- journal article
- research article
- Published by Oxford University Press (OUP) in International Journal of Epidemiology
- Vol. 37 (3) , 641-653
- https://doi.org/10.1093/ije/dym257
Abstract
Background In the context of genome-wide association studies we critique a number of methods that have been suggested for flagging associations for further investigation. Methods The P-value is by far the most commonly used measure, but requires careful calibration when the a priori probability of an association is small, and discards information by not considering the power associated with each test. The q-value is a frequentist method by which the false discovery rate (FDR) may be controlled. Results We advocate the use of the Bayes factor as a summary of the information in the data with respect to the comparison of the null and alternative hypotheses, and describe a recently-proposed approach to the calculation of the Bayes factor that is easily implemented. The combination of data across studies is straightforward using the Bayes factor approach, as are power calculations. Conclusions The Bayes factor and the q-value provide complementary information and when used in addition to the P-value may be used to reduce the number of reported findings that are subsequently not reproduced.Keywords
This publication has 26 references indexed in Scilit:
- Genome-wide association study identifies novel breast cancer susceptibility lociNature, 2007
- Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature, 2007
- A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult ObesityScience, 2007
- A genome-wide association study identifies novel risk loci for type 2 diabetesNature, 2007
- Genome-wide association studies: theoretical and practical concernsNature Reviews Genetics, 2005
- Genome-wide association studies for common diseases and complex traitsNature Reviews Genetics, 2005
- Assessing the Probability That a Positive Report is False: An Approach for Molecular Epidemiology StudiesJNCI Journal of the National Cancer Institute, 2004
- Betting Odds and Genetic AssociationsJNCI Journal of the National Cancer Institute, 2004
- Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage DisequilibriumAmerican Journal of Human Genetics, 2004
- Problems of reporting genetic associations with complex outcomesThe Lancet, 2003