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Department of Statistics DISSERTATION PROPOSAL JOELLE MBATCHOU Department of Statistics The University of Chicago Permutation-Based Methods for Assessing Significance in Genetic Association Studies with Binary Traits and Related Individuals WEDNESDAY, November 12, 2014, at 10:00 AM Eckhart 110, 5734 S. University Avenue ABSTRACT One of the main goals of human genetics is to identify genetic risk factors for common, complex diseases such as type 2 diabetes. Some recently proposed association tests involve aggregating across variants in a gene or region and lead to test statistics with unknown null distribution, an issue which can be solved by using permutation to assess significance. In the presence of related individuals in the sample, we encounter lack of exchangeability among the phenotype as well as the genotype which prevents us from using a simple permutation approach. We motivate and propose several permutation-based methods for binary traits that generate either phenotype or genotype replicates and accommodate for samples containing related individuals. _______________________________ For information about building access for persons with disabilities, please contact Laura Rigazzi at 773.702-0541 or send an email to [email protected]. If you wish to subscribe to our email list, please visit the following web site: https://lists.uchicago.edu/web/arc/statseminars.