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2014 Featured Talks » SF3B1 mutations in different cancer types cause recognition of sterically hindered cryptic splice-sites downstream of the branch point



Part One

Part Two

SF3B1 mutations in different cancer types cause recognition of sterically hindered cryptic splice-sites downstream of the branch point


Kelly Frazer, PhD
Moores Cancer Center




Kelly Frazer
Chief, Division of Genome Information Sciences
Director, UCSD Institute for Genomic Medicine


Dr. Frazer is a professor and the founding chief of the Division of Genome Information Sciences in the Department of Pediatrics, working on identifying genomic markers associated with complex diseases in children as well as across the lifespan. Her laboratory is located in the Moores UCSD Cancer Center, where she works closely with physician-scientists.

Prior to joining UCSD in 2009, Dr. Frazer was Professor of Translational Genomics at the Scripps Research Institute and, previously, Vice President of Genomic Biology at Perlegen Sciences. Dr. Frazer has spent the past 20 years studying various aspects of functional and structural human genomics, and her contributions include pioneering cross-species DNA sequence comparisons between humans and mice, generating the content now publicly available in the “HapMap Phase II,” and developing novel methods for identifying and functionally annotating variants underlying GWAS signals.

Dr. Frazer’s current research studies are supported by the National Institutes of Health, California Institute for Regenerative Medicine, and Breast Cancer Research Foundation, as well as numerous industry and cross-institutional collaborations. Dr. Frazer is a leader at the university’s Clinical and Translational Research Institute and the Institute for Genomic Medicine.