Clinical Exome Testing
Speaker:
Timothy Yu, MD, PhD
Contact Hours:
1.0
Date:
November 27, 2024 - November 30, 2026
Description:
Tim Yu is a neurologist and researcher at Boston Children’s Hospital with broad expertise in genomics, molecular biology, informatics, and personalized medicine. His research focuses on developing and applying high throughput sequencing methods to human genetic disorders. He developed early methods for sequence capture and constructed one of the first large scale data pipelines for detecting, annotating, and interpreting disease variants from human genomic data.
Learning Objectives:
- Review the evolution of genetic testing in pediatric clinical practice from single genes to whole exomes.
- Discuss clinical scenarios that call for clinical exome testing vs. alternatives.
- Discuss options for simplifying testing via tiered approaches.
- Important considerations to look for when choosing a clinical whole exome