JUN 10, 2021 7:00 AM PDT

Simplify complex genetic diseases by quantifying structural and copy number variants

Sponsored by: Genomic Vision
Speaker

Abstract
Date:  June 10, 2021
Time: 7:00am (PDT),  10:00am (EDT),  4:00pm (CEST)
 
Discover how to categorize small-to-large genetic modifications using molecular combing. Our Proprietary Genome Morse Code (GMC) technology from Genomic Vision enables you to physically map and comprehensively analyze altered genes. You will see ways to use molecular combing with GMC to diagnose repeat associated diseases such as FSHD using the FiberProbes® FSHD CE-IVD assay. Gaining insights into the mechanics of such genetic diseases using molecular combing FiberProbes® and GMC facilitates the development of more efficient disease-treatment protocols and improved outcomes.
 
Additionally, you will discover how visualizing structural and copy number variants using molecular combing lets you directly correlate the underlying mechanics of familial adult myoclonic epilepsy (FAME) and other genetic diseases. FAME molecular combing exposes the considerable variability in repeat-length expansion, supporting the existence of multiple expansion configurations and mosaicism.
 
Learning Objectives:
  • Outline how proprietary Genome Morse Code (GMC) technology enables you to physically map and comprehensively analyze altered genes
  • Interpret the mechanics of such genetic diseases using molecular combing FiberProbes® and GMC facilitates the development of more efficient disease-treatment protocols and improved outcomes

 

 
  • June 10 - Simplify complex genetic diseases by quantifying structural and copy number variants - Mario Avarello
    • Genomic rearrangements and structural variations
 
 
 
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