Pathogenicity Interpretation in the Age of Precision Medicine

Tuesday, 6 October 2015 from 8:30 AM - 4:00 PM

Holiday Inn Baltimore Inner Harbour, Baltimore, United States


HGVS logoPathogenicity Interpretation in the Age of Precision Medicine

Tuesday 6th October 2015

Baltimore, MD, USA

Event immediately prior to the ASHG 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. 


Scientific Programme Committee

  • Steven Brenner, Univ. of California Berkeley, USA
  • Anthony Brookes, Univ. of Leicester, UK
  • Marc Greenblatt, Univ. of Vermont, USA
  • Rachel Karchin, Johns Hopkins, USA
  • Shamil Sunyaev, Harvard Medical School, USA
  • Peter Taschner,LUMC, Leiden, Netherlands


Invited Speakers Pathogenicity Interpretation

  • Carlos Bustamante - Stanford University, USA - Computational methods for pathogenicity assessment
  • Fergus Couch - Mayo Clinic, USA - Functional assays for assessment of variants of uncertain significance (VUS) in breast and ovarian cancer predisposition genes
  • Rachel Karchin, Johns Hopkins, USA - Towards increasing the clinical relevance of computational methods to predict the consequence of human genetic variation
  • Nicholas Katsanis - Duke University, USA - Experimental methods for pathogenicity assessment
  • Harry Ostrer - Albert Einstein College of Medicine, USA - Predicting the pathogenicity of genetic variants in the DNA double-strand break repair pathway
  • Fritz Roth - University of Toronto, Canada- Systematically identifying pathogenic human variants using yeast

Invited Speakers/Panelists Variant Nomenclature

  • Deanna Church - Personalis Inc, USA - Variant representation in a world of change
  • Fiona Cunningham - European Bioinformatics Institute (EMBL-EBI), UK
  • Johan T. den Dunnan - Leiden Univ. Medical Centre, The Netherlands - The HGVS recommendations to describe DNA, RNA and protein sequence
  • Reece Hart - Invitae, San Francisco, USA
  • Jean McGowan-Jordan - University of Ottawa, Canada - Working towards a combined ISCN and HGVS standard for the description of chromosome rearrangements



Closing Date 12th August 2015 - Abstract Submission has closed

We invite abstracts to be submitted to the meeting within the theme of pathgenicity interpretation for consideration as both oral and poster presentations. We also welcome other abstracts with general "variation" themes. Abstracts within the theme will be given priority for oral presentations. Please see the Abstract tab above for instructions on formatting and how to submit.

You do not need to submit an abstract to attend.


Chesapeake Room

Holiday Inn Baltimore Inner Harbour (one block from Convention Centre)

301 West Lombard Street

Baltimore, MD, USA



Tuesday 6th October 2015

  • Registration opens 7.30 am 
  • Meeting begins 8.15 am
  • Meeting ends 4.00 pm (in time for you to walk to ASHG Plenary Session)


Registration includes access to the conference, administrative costs eg room rental, AV etc, coffee breaks, and lunch.

The fees are in US dollars.

EARLYBIRD: until  31st August 2015

HGVS Member: $170  (you can join while registering if not a member US$50)
Non-member: $190

REGULAR: from 1st September 2015 to onsite

HGVS Member: $200 
Non-member: $220

If you are not a HGVS member, why not join the Society now while you are registering and you automatically receive the discount.


If you are attending the ASHG meeting, you may use their accommmodation booking service to book your room. 



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