Models and methods for genome -wide association studies

作者: Weihua Guan

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摘要: Genome-wide association (GWA) studies provide an extensive assessment of common genetic variants across the human genome for disease association. However, due to variation in allele frequencies and prevalence populations, combining samples from different geographic or ethnic groups may lead spurious evidence diminish true signals. In part one this dissertation, I propose a novel approach correct population stratification that makes use large amount information available GWA study. Based on allele-sharing identity-by-state (IBS) measures, develop similarity scores can describe between individuals, match cases controls accordingly. Association tests then be performed conditional matched case-control groups. apply our Pritzker bipolar two, extend matching families arbitrary structure. first score-based selected members each family assign other same group. modify corrected chi-square test [Bourgain et al., 2003] following Mantel-Haenszel procedure account correlations both controls.

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