Biomedical Sciences (BMS) Graduate Program
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Pui-Yan Kwok, MD, PhD
Analysis of Complex Genetic Traits
Selected Publications | Complete Publications


The overall goal of my research is to develop the tools for genetic analysis of whole genomes and apply these tools to elucidate the genetic factors associated with common human diseases. We are actively involved in three areas of research. First, we are part of the International Haplotype Map Consortium to construct linkage disequilibrium (haplotype) maps of the human genome with markers at 2-5 kilobasepair intervals. This map will be available to all researchers to map genes involved in common human diseases. Second, we are developing efficient genotyping and haplotyping methods for complex trait analysis. These methods will increase the speed and reduce the cost of large-scale association studies. Third, we are applying the tools we are developing to identify genetic factors associated with complex human traits such as susceptibility to psoriasis, longevity, and response to chemotherapy in colon cancer.

Selected Publications

Taillon-Miller, P, Bauer-Sardiña, I, Saccone, NL, Putzel, J, Laitinen, T, Kere, J, Pilia, G, Rice, JP and Kwok, P-Y: Juxtaposed Regions of Extensive and Minimal Linkage Disequilibrium in Human Xq25 and Xq28. Nature Genet. 2000; 25:324 -328.

The International SNP Map Working Group: A map of human genome sequence variation containing 1.4 million SNPs. Nature. 2001; 409:928-933.

Marth, G, Yeh, R, Minton, M, Donaldson, R, Li, Q, Duan, S, Davenport, R, Miller, RD, and Kwok, P-Y: Single nucleotide polymorphisms in the public database: how useful are they? Nature Genetics 2001; 27:371-372.

Marth, G, Schuler, G, Yeh, RG, Davenport, R, Agarwala, R, Church, D, Wheelan, S, Baker, J, Ward, M, Kholodov, M, Phan, L, Czabarka, E, Murvai, J, Cutler, D, Wooding, S, Rogers, A, Chakravarti, A, Harpending, H, Kwok, P-Y, and Sherry, ST. Sequence variations in the public human genome data reflect a bottlenecked population history. Proc. Natl. Acad. Sci. USA 2003; 100:376-381.

Xiao, M and Kwok, P-Y. DNA Analysis By Fluorescence Quenching Detection. Genome Research, in press.


information last updated February 2003

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