Identification of structural variants (SVs) is critical to the prognosis of acute myeloid leukemia (AML) and other hematologic malignancies. SVs are not readily identified by next generation sequencing methods and are currently diagnosed by cytogenetics, an intrinsically low resolution tool. Dr. James Broach from Penn State Hershey will discuss a new method for determining large SVs as a clinical tool for evaluating AML and other cancer genomes using Bionano optical mapping.
Dr. Broach has applied this technology for detection of SVs in a variety of cancer cell lines and directly from leukemia patient blood samples. In all cases, they have identified all the SVs reported by classic cytogenetic analysis and, in addition, a large number of translocations, deletions and insertions not observed by cytogenetics.
Speaker: Dr. Broach is Distinguished Professor and Chair of the Department of Biochemistry and Molecular Biology at Penn State Hershey, Director of the Penn State Institute for Personalized Medicine and Professor Emeritus of Princeton University. Dr. Broach was Professor of Molecular Biology at Princeton University from 1984-2012, where he served as Associate Director of the Lewis Sigler Institute for Integrative Genomics and Co-Director of the Center for Computational Biology. Dr. Broach has served as a member of both the Genetics and the Genomics Study Sections and Chair of the Genomics, Computational Biology and Technology Study Section of the National Institutes of Health as well as chair of numerous special emphasis genomics panels. He was Co-Founder and Director of Research for Cadus Pharmaceuticals from 1992 to 2000. Dr. Broach is a Fellow of the American Academy of Microbiology and a Fellow of the American Association for the Advancement of Science. Dr. Broach has published more than 175 articles in the area of molecular biology and genomics and holds a number of patents in drug discovery technologies.
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