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Variant Effect Prediction Training Course

 
  January 21, 2020  
     
 


The Human Variome Project, Barcelona, Spain
28 Sept - 1 Oct. 2020


THE DETAILED PROGRAM INFO. IS HERE:  http://veptc.variome.org/program.html 
 
 
Organized by: The Human Variome Project
Invited Speakers:
TOPICS
 
  • General variant databases: OMIM, dbSNP, ExAC etc.
  • Locus Specific Databases
  • DNA diagnostics = sharing data
  • Potential Consequences on the RNA Level
  • Potential Consequences on the Protein Level
  • RNA Prediction Tools
  • Protein Prediction Tools
  • Functional Testing: options of functional testing for candidate variants
  • Variant Classification: ACMG recommendations
  • Copy Number Variants (CNVs from WES)
  • NGS in Diagnostics: where things can go wrong
  • Leiden Open Variation Database (LOVD)
  • LOVD+
  • Classification in multifactorial disease
  • Whole Exome Sequencing Analysis
  • Future Developments
  • Commercial packages
  • & more...
 
Deadline for Abstracts: 31st July 2020
 
Registration: Details about the course and registration here: http://veptc.variome.org/home.html
E-mail: info@meeting-makers.com
 
 
   
 
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