Clinical Exome Sequencing at UCLA - UCLA Pathology & Laboratory Medicine

Explore the cutting-edge field of clinical exome sequencing in this informative lecture from the 2nd Annual Symposium on Clinical Applications of Genome-Wide Testing at UCLA. Delve into the intricacies of exome sequencing, its challenges, and its profound impact on genetic diagnostics. Learn about genetic phenotypes, requisition processes, and examine real-world case studies, including juvenile ALS and Triple A Syndrome. Discover how this revolutionary technology is changing lives and advancing medical research, offering insights into complex genetic disorders and paving the way for personalized medicine.

Syllabus

Introduction
What is Exome Sequencing
Challenges of Exome Sequencing
What I love about Exome Sequencing
Genetic Phenotypes
Requisitions
Case
Diagnosis
Life Changes
Juvenile ALS
Triple A Syndrome
Case Presentation
Research Findings