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Transcript
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.
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