Abstract
The diploid human genome cannot be analyzed fully with short-read sequencing data commonly obtained. With new sequencing approaches, de novo genome sequence assembly is now possible, making it feasible to move beyond reference-based single nucleotide variation analysis to one that includes genome-wide structural variation and haplotype analysis. As many unsolved genetic diseases are found in populations around the world, this novel strategy for diagnosis can be applied to solve difficult cases in Hong Kong and beyond.
About the speaker
Prof Pui-Yan Kwok received his MS in Human Biology, PhD in Organic Chemistry and Doctor of Medicine from University of Chicago in 1981, 1985 and 1987 respectively. After serving his residence at the Washington University Medical Center, he became the Assistant Professor of Dermatology and Genetics at the University of Washington School of Medicine in 1993, where he was promoted to the rank of Associate Professor in 1999. In 2002, he joined University of California at San Francisco as the Professor of Dermatology, and Henry Bachrach Distinguished Professor and Investigator of the Cardiovascular Research Institute (CVRI).
Prof Kwok’s research interests include human genetics, genomics, DNA sequence variation, complex trait analysis, pharmacogenetics and biotechnology. His overall research goals are to develop tools for genetic analysis of whole genomes and apply these tools to elucidate the genetic factors associated with common human diseases. First, he is developing an efficient genome sequence assembly strategy that is based on single molecule technologies. Second, he is applying the latest genetic tools to search for genetic factors associated with both Mendelian disorders and complex human traits. Prof Kwok has served on the editorial boards of several journals including Human Mutation, Biotechniques, Human Genomics and Proteomics, etc.
Prof Kwok has received awards such as the Henry Christian Award for Excellence in Research in 1993. He was also the Elected Active Member of the American Dermatological Association in 2008.
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