Efficient and Scalable Analysis of the Clinical Genome as a Foundation for Precision Medicine Whole-genome sequencing has revolutionized the diagnosis of genetic disorders. Up to 1/3 or more of patients undergoing genomic evaluation have a cause for their symptoms identified. However, this means that the majority of patients remain without an explanation for their symptoms. In this talk, we will present our experiences with cutting edge genomic testing and additionally present an overview of our novel suite of computational diagnostic tools developed to provide hope to undiagnosed patients and their families. SPEAKERS Gill Bejerano, PhD - Dr. Bejerano is an Associate Professor of Developmental Biology, of Computer Science, of Biomedical Data Science, and of Pediatrics (Medical Genetics) at the Stanford School of Medicine. Jonathon Bernstein, MD, PhD - Dr. Bernstein is an Associate Professor of Pediatrics at the Stanford School of Medicine and Chief of the Division of Medical Genetics. He received his MD and PhD in genetics from Stanford. After graduation he completed residency training in pediatrics and then medical genetics. He joined the faculty at Stanford in 2008. His research focuses on the diagnosis, management and discovery of rare genetic syndromes with an emphasis on developmental disorders. Dr. Bernstein's clinical work encompasses his practice as a medical geneticist and medical direction of the Stanford Cleft and Craniofacial Center. The MCHRI Seminar Series highlights compelling clinical topics, innovative research, and the latest developments in maternal and child health. The series provides a unique platform for engaging in conversations and collaborating with other researchers across the community. The seminars series is open to all, including faculty, staff, trainees, postdocs, and all members of the research community. Seats are limited, and reservation is required. Limited lunch will be provided on a first-come, first-served basis. Attendees are w
Mountain View, California
