April Hall, PhD, MS, CGC

Xiangqiang (XQ) Shao, MS, PhD

Stephen Meyn, MD, PhD

Max Frenkel, BS, MS 

 

Title: Undiagnosed Disease Program Case Review

 

Learning Objectives:

  1. Examine the use of whole genome sequencing to identify novel variants that were not identified by whole exome sequencing. 
  2. Define how new technologies can improve our understanding of the pathobiology of genetic disorders and the relationships between genomic variation and disease.
  3. State the importance of in-depth phenotyping for rare diseases
  4. Identify a variety of tools and resources that can help diagnose patients.
Session date: 
01/18/2023 - 4:00pm to 5:00pm CST
Location: 
Virtually
WI
United States
See map: Google Maps
  • 1.00 AMA PRA Category 1 Credit™
  • 1.00 ANCC Contact Hours
  • 1.00 NSGC Category 1 CEU Contact Hours
  • 1.00 University of Wisconsin–Madison Continuing Education Hours
    • 1.00 Approved for AMA PRA Category 1 Credit™
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Discloser List CME Internal Report
Presenter(s): 
Xiangqiang Shao, MS, PhD
April Hall, PhD, MS, CGC
Stephen Meyn, MD, PhD
Max Frenkel, BS, MS