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1.  Comparison of SNP-based and gene-based association studies in detecting rare variants using unrelated individuals 
BMC Proceedings  2011;5(Suppl 9):S41.
We compare the SNP-based and gene-based association studies using 697 unrelated individuals. The Benjamini-Hochberg procedure was applied to control the false discovery rate for all the multiple comparisons. We use a linear model for the single-nucleotide polymorphism (SNP) based association study. For the gene-based study, we consider three methods. The first one is based on a linear model, the second is similarity based, and the third is a new two-step procedure. The results of power using a subset of SNPs show that the SNP-based association test is more powerful than the gene-based ones. However, in some situations, a gene-based study is able to detect the associated variants that were neglected in a SNP-based study. Finally, we apply these methods to a replicate of the quantitative trait Q1 and the binary trait D (D = 1, affected; D = 0, unaffected) for a genome-wide gene search.
doi:10.1186/1753-6561-5-S9-S41
PMCID: PMC3287878  PMID: 22373242
2.  An integrated genome-wide association analysis on rheumatoid arthritis data 
BMC Proceedings  2007;1(Suppl 1):S35.
We propose a nonparametric association analysis combining both family and unrelated case-control genotype data. Under the assumption of Hardy-Weinberg equilibrium, we formed an affected group to compare with a group of unaffecteds.
Comparison with traditional case-control chi-square test and transmission-disequilibrium test shows that this new approach has noticeably improved power. All analysis was based on the simulated rheumatoid arthritis data provided by Genetic Analysis Workshop 15. In the situation of population stratification, we also suggest an approach to update the genotype data using principal components. However, the Genetic Analysis Workshop 15 simulation data does not simulate population stratification. All analysis was done without knowledge of the answers.
PMCID: PMC2367523  PMID: 18466533

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