Statistical methods in genetic studies

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In human genetics, the ultimate research goal is to understand the biological mechanism underlying the complex system through genetic studies, so that, human beings can benefit from the knowledge that derives from these research activities. The common theme of my research projects is to develop statistical methods for integrating diverse types of genomic data (e.g., genetic marker data, micro-array data) for genetic studies in different purposes.One of my research topics focuses on developing statistical methods for using densely spaced markers in genetic linkage study for complex disease gene mapping. When densely spaced markers are used for linkage analysis, there are often strong associations among tightly spaced markers. Improper handling of the association may lead to significantly biased results. I propose a statistical method that incorporates the association effects into the current existing linkage analysis method to solve this problem. On the other hand, I propose to characterize the association patterns among markers based on graphical models. Another research topic in the area of linkage analysis focuses on applying the theory of level crossings of a Gaussian process to model the excursion peak process in ASP analysis for detecting the chromosome that contains disease gene.Although biological techniques allow genotyping a single nucleotide polymorphism (SNP) at low cost, individual genotyping of a large number of SNPs is expensive when thousands of subjects are studied. Pooling individuals' DNA together for genotyping has been advocated as it can efficiently reduce cost, labor and time. The challenge of the pooling approach focuses on the precision of allele frequency estimate from a group of individuals pooled together for genotyping. As the pooling of two individuals at one time may reduce the genotype cost two fold, we propose to develop a new genotyping algorithm for determining the number of alleles possessed by the pairs of individuals when two individuals are pooled for genotyping.