Pui-Yan Kwok, MD, PhD

Professor
Cardiovascular Research Institute
+1 415 271-7832
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: 

Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.

Science (New York, N.Y.)

Liu H, Abedini A, Ha E, Ma Z, Sheng X, Dumoulin B, Qiu C, Aranyi T, Li S, Dittrich N, Chen HC, Tao R, Tarng DC, Hsieh FJ, Chen SA, Yang SF, Lee MY, Kwok PY, Wu JY, Chen CH, Khan A, Limdi NA, Wei WQ, Walunas TL, Karlson EW, Kenny EE, Luo Y, Kottyan L, Connolly JJ, Jarvik GP, Weng C, Shang N, Cole JB, Mercader JM, Mandla R, Majarian TD, Florez JC, Haas ME, Lotta LA, Regeneron Genetics Center‡, GHS-RGC DiscovEHR Collaboration§, Drivas TG, Penn Medicine BioBank¶, Vy HMT, Nadkarni GN, Wiley LK, Wilson MP, Gignoux CR, Rasheed H, Thomas LF, Åsvold BO, Brumpton BM, Hallan SI, Hveem K, Zheng J, Hellwege JN, Zawistowski M, Zöllner S, Franceschini N, Hu H, Zhou J, Kiryluk K, Ritchie MD, Palmer M, Edwards TL, Voight BF, Hung AM, Susztak K, Regeneron Genetics Center, GHS-RGC DiscovEHR Collaboration, Penn Medicine BioBank

Polygenic height prediction for the Han Chinese in Taiwan.

NPJ genomic medicine

Chang CH, Chou CY, Raben TG, Chen SA, Jong YJ, Wu JY, Yang SF, Chen HC, Chen YL, Chen M, Ma GC, Huang CY, Wang TF, Lee SL, Hung CF, Pang ST, Widen E, Chang YM, Yeh EC, Wei CY, Chen CH, Hsu SDH, Kwok PY

A de novo int22h-1/int22h-2-flanked Xq28 deletion-associated preferential X-inactivation in a female with severe hemophilia B.

Pediatric blood & cancer

Chen WC, Kao HJ, Kwok PY, Chiou SS, Kuo YL, Hsu WY, Lu PT, Wu CR, Lin PC

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

NPJ genomic medicine

Kao HJ, Lin TY, Hsieh FJ, Chien JY, Yeh EC, Lin WJ, Chen YH, Ding KH, Yang Y, Chi SC, Tsai PH, Hsu CC, Hwang DK, Tsai HY, Peng ML, Lee SH, Chau SF, Chen CY, Cheang WM, Chen SJ, Kwok PY, Chiou SH, Lu MJ, Huang SP

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.

NPJ genomic medicine

Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N