
Delivering Precision Medicine at UCSF: Whole Exome Sequencing Goes Live
Event Information
Description
The UCSF Genomic Medicine Initiative of the Institute for Human Genetics is now providing clinical Whole Exome Sequencing. This milestone event in the delivery of precision medicine at UCSF is the consequence of significant efforts by our outstanding clinical geneticists, genetic counselors, laboratory staff, molecular pathologists, bioethicists, and bioinformaticians.
Whole exome sequencing analyzes the genome’s coding region for variants that cause disease. By sequencing just 2% of the genome, we can detect ~85-90% of known variants causing genetic disorders. This test has greatly increased diagnostic yield in patients with complex clinical presentations unsolved by conventional approaches. Please join us for a symposium celebrating the arrival of this cutting-edge testing technology at UCSF!
Gail Jarvik, MD, PhD, Joint Professor of Medicine and Genome Sciences at the University of Washington, will present the Charles J. and Lois B. Epstein Lecture: “Moving the Genome to the Clinic”