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Pui Yan Kwok
The overall goal of our research is to develop the tools for genetic analysis of whole genomes and to apply these tools to elucidate the genetic factors associated with common human traits. We are actively involved in three areas of research. First, we are developing efficient methods for single DNA molecule analysis with the goals of mapping whole genomes and determining the haplotypes of diploid individuals unambiguously. Second, we are applying state-of-the-art genetic tools to search for genetic factors associated with complex human traits. Third, we are studying genes involved in drug transport and metabolism in different ethnic populations to identify gene variants that affect drug response or lead to adverse reactions. On-going collaborative projects include studies of genetic susceptibility to psoriasis, narcolepsy, systemic lupus erythematosus, hemorrhagic risk in brain arteriovenous malformations, and sudden cardiac arrest; identification of functional variants in genes that affect drug response; search for genetic determinants for longevity; prediction of kidney transplantation outcomes based on the genetic, proteomic, and expression patterns of the recipients and the grafts; and the elucidation of the structure-function relationship of collagen genes, especially in the context of osteogenesis imperfecta. Recent publications: International HapMap Consortium, et al. 2007. A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-61. Sabeti PC, et al. 2007. Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-8. Musone SL, et al. 2008. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nature Genet. 40:1062-4. Bodian DL. et al. 2009. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet. 18:463-71. Nair RP, et al. 2009. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kB pathways. Nature Genet. 41:199-204. de Cid R, et al. 2009. Deletion of the late cornified envelope (LCE) 3B and 3C genes as a susceptibility factor for psoriasis. Nature Genet. 41:211-21. Xiao M, et al. 2009. Direct determination of haplotypes from single DNA molecules. Nature Meth., in press.