M.D., Ph.D., Henry Bachrach Distinguished Professor, University of California, San Francisco
Dr. Kwok’s research focuses on the development and use of state-of-the-art strategies to identify genetic factors associated with complex human traits. He and colleagues recently developed new technologies for single molecule analysis, resulting in a new platform for genome-wide mapping of structural variations, haplotyping, and de novo sequence assembly. In collaborations, he studies the genetics of longevity, sudden cardiac arrest, bipolar disorder, scleroderma, brain arteriovenous malformations, adverse drug reactions, and kidney transplantation outcome. Recently, he and collaborators generated genome-wide SNP profiles of >100,000 individuals with comprehensive health records to identify genetic and environmental factors associated with a multitude of conditions.
De novo Assembled Genomes for Full Genome Analysis
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 possible to move beyond reference-based single nucleotide variation analysis to one that includes genome-wide structural variation and haplotype analysis.
Session Abstract – PMWC 2017 Silicon Valley
Session Synopsis: Current approaches to genomic analysis have shown great promise in improving diagnostic and therapeutic decision making. However, the medical genome is incomplete using standard methods. Additional data suggests that analysis at the single cell level improves our understanding of biologically complex disease. This session will reveal new technology that is enabling progress in both of these areas.