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.
Session Chair Profile
Dr. Deanna Church is currently the Senior Director of Applications at 10X Genomics. Previously, she was Senior Director of Genomics and Content at Personalis. Prior to that, she was a staff scientist at NCBI, where she oversaw several projects concerning managing and displaying genomic data. Dr. Church was also a member of the Genome Reference Consortium (GRC) an international consortium charged with improving the human, mouse and zebrafish assemblies, and was an author on the two seminal manuscripts describing the human and mouse genome sequences. She has experience in molecular biology, genetics, genomics, bioinformatics, and is currently focusing on improving genome analysis. She graduated from the University of Virginia with a BA in Liberal Arts and received her doctoral degree in the Biological Sciences at the University of California, Irvine with Dr. John Wasmuth. She performed postdoctoral work with Dr. Janet Rossant at the Samuel Lunenfeld Research Institute at Mount Sinai Hospital in Toronto.
M.D., Associate Professor, Attending Oncologist and Clinical Geneticist, Stanford University
Dr. Hanlee Ji graduated in 1994 from John Hopkins School of Medicine in Internal Medicine and went on to specialize in Oncology. He is currently the Assistant Professor, Medicine – Oncology at Stanford University CA. His research group is pursuing projects focused on personalized medicine. Specifically, he is interested in using genetic and genomic approaches in oncology to improve targeted cancer therapy, make accurate prognosis, predict cancer therapy efficacy and identify clinically relevant cancer mutations.
Single Molecule and Cell Genomic and Immunologic Determinants of Cancer
Determinants of cancer will increasingly occur at the resolution of single molecule and cells. This presentation describes how new genomic methods are being used to discretely and granularly identify determinants of cancer development, maintenance and immunologic interactions with the benefits of high resolution analysis with single molecule and cell granularity.
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.