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Updated: Jun 25, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Beyond odds ratios--communicating disease risk based on genetic profiles
Peter Kraft1, Sholom Wacholder, Marilyn C Cornelis
1Harvard School of Public Health, Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA. pkraft@hsph.harvard.edu
Abstract:
The brisk discovery of novel inherited disease markers by genome-wide association (GWA) studies has raised expectations for predicting disease risk by analysing multiple common alleles. However, the statistics used during the discovery phase of research (such as odds ratios or p values for association) are not the most appropriate measures for evaluating the predictive value of genetic profiles. We argue that other measures--such as sensitivity, specificity, and positive and negative predictive values--are more useful when proposing a genetic profile for risk prediction.
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