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Pathogenicity Interpretation in the Age of Precision Medicine

 
  July 01, 2015  
     
 
Human Genome Variation Society, Baltimore, MD, USA
6th October 2015


Event immediately priot to the American Society of Human Genetics' Annual Meeting

 

There is now a convergence of the world of genetic testing of few genes at a time, based on suspicion of genetic disease, and the world of large scale genomic testing. Both disciplines have as a major goal the interpretation of pathogenicity of genetic variants. The HGVS is focusing attention on advancing the field of variant interpretation. Progress will require both new developments in analyses (in vitro, in silico, statistical, and other methods) and cooperation among all scientific, clinical, and regulatory stakeholders in developing and maintaining standards for all areas of pathogenicity assessment. This year’s meeting will cover all of these areas, including discussions of updates to variant nomenclature to accommodate genomic data. 

 

 
 
Organized by: Human Genome Variation Society
Invited Speakers:


Invited Speakers Pathogenicity Interpretation

  • Carlos Bustamante - Stanford University, USA - Computational methods for pathogenicity assessment
  • Fergus Couch - Mayo Clinic, USA - Functional Assays in the assessment of BRCA1/2 variants
  • Rachel Karchin, Johns Hopkins, USA - Computational methods for pathogenicity assessment
  • Nicholas Katsanis - Duke University, USA - Experimental methods for pathogenicity assessment
  • Harry Ostrer - Albert Einstein College of Medicine, USA - Functional Assays in the assessment of BRCA1/2 variants
  • Fritz Roth - University of Toronto, Canada- Experimental methods for pathogenicity assessment

Invited Speakers/Panelists Variant Nomenclature

  • Deanna Church - Personalis Inc, USA
  • Fiona Cunningham - European Bioinformatics Institute (EMBL-EBI), UK
  • Johan T. den Dunnan - Leiden Univ. Medical Centre, The Netherlands
  • Reece Hart - San Francisco, USA
  • Jean McGowan-Jordan - University of Ottawa, Canada
  • Annet Simons, the Netherlands*

*To be confirmed


 
Deadline for Abstracts: 12th August 2015
 
Registration: Details on the website.
E-mail: rania@variome.org
 
   
 
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