Pui-Yan Kwok, MD, PhD

Professor
Cardiovascular Research Institute
+1 415 514-1128
Research Overview: 

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.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Analysis of Complex Genetic Traits

Websites

Publications: 

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular psychiatry

Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Champion S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ

A large-scale association study detects novel rare variants, risk genes, functional elements, and polygenic architecture of prostate cancer susceptibility.

Cancer research

Emami NC, Cavazos TB, Rashkin SR, Graff RE, Tai CG, Mefford JA, Kachuri L, Cario CL, Wan E, Wong S, Aaronson D, Presti J, Habel LA, Shan J, Ranatunga DK, Chao CR, Ghai NR, Jorgenson E, Sakoda LC, Kvale MN, Kwok PY, Schaefer C, Risch N, Hoffmann TJ, Van Den Eeden SK, Witte JS

Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data.

GigaScience

Batra SS, Levy-Sakin M, Robinson J, Guillory J, Durinck S, Vilgalys TP, Kwok PY, Cox LA, Seshagiri S, Song YS, Wall JD

Towards a reference genome that captures global genetic diversity.

Nature communications

Wong KHY, Ma W, Wei CY, Yeh EC, Lin WJ, Wang EHF, Su JP, Hsieh FJ, Kao HJ, Chen HH, Chow SK, Young E, Chu C, Poon A, Yang CF, Lin DS, Hu YF, Wu JY, Lee NC, Hwu WL, Boffelli D, Martin D, Xiao M, Kwok PY