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1
Introduction
2
What is Exome Sequencing
3
Challenges of Exome Sequencing
4
What I love about Exome Sequencing
5
Genetic Phenotypes
6
Requisitions
7
Case
8
Diagnosis
9
Life Changes
10
Juvenile ALS
11
Triple A Syndrome
12
Case Presentation
13
Research Findings
Description:
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.

Clinical Exome Sequencing at UCLA - UCLA Pathology & Laboratory Medicine

University of California, Los Angeles
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