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It is with great regret that for the 1st time the Human Genome Variation Society is cancelling its annual meeting at ASHG. 

Unfortunately three key invited speakers cancelled at the last minute and we were unable to find suitable replacements in a short time therefore we were left with no option other than to cancel.

If you have registered, you were sent an emailed letter on the 2nd Oct. and a reimursement of your registration fee has been made.

We look forward to welcoming you at our event at next year's ASHG!

Earlybird Ends 31st August

Close 5th September


A scientific meeting of the Human Genome Variation Society

satellite meeting to the American Society of Human Genetics' Annual Meeting.

Genetics and genomics research now includes approaches that integrate laboratory data with electronic medical record (EMR) systems for genomic discovery and implementing genomic medicine in the clinic. These avenues are being addressed through multiple initiatives around the world. This year's HGVS meeting will present speakers who represent several ongoing projects focused on leveraging the EMR to help interpret genetic variation, highlighting bench-to-bedside and bedside-to-bench approaches.

Abstracts - Close 5th September 2018

We invite abstracts to be submitted to the meeting within the theme of "Leveraging the Electronic Medical Record for Genomic Interpretation" as both oral and poster presentations. We also welcome other abstracts with general "variation" themes but these will most likely be poster presentation only. Abstracts within the theme will be given priority for oral presentations. Please follow instructions on the Abstract page.

Keynote Speakers


CSER (Clinical Sequencing Exploratory Research) Initiative - Brian Shirts

Informatics & Phenotype - Marylyn Ritchie

Fast Healthcare Interoperability Resource - Atul Butte

Phenotopic ontologies & clinical integration with CD2H, the Monarch Initiative and/or the NCATS Translator (exact title to be advised)

 - Melissa Haendel

EHR and Genomics to Find Mendelian Disease - Lisa Bastarache



Invited Speakers

Bastarache, Lisa

Manager, Application Development/Lead Data Scientist, Biomedical Informatics, Vanderbit University Medical Center
Short Bio to come soon. Lisa is responsible for the development and implementation of new... More

Butte, Atul

Professor, UCSF School of Medicine
Professor Priscilla Chan and Mark Zuckerberg Distinguished Professor UCSF School of Medicine... More

Haendel, Melissa A.

Director of Translational Data Science, Linus Pauling Institute, Oregon State University
My vision is to fundamentally alter the fabric of biomedical science, utilizing my art as a data... More

Ritchie, Marylyn

Phd Dept. of Genetics, University of Pennsylvania
Faculty Pending, Department of Genetics Director, Center for Translational Bioinformatics,... More

Shirts, Brian

Assistant Professor, University of Washington
Brian Shirts M.D., Ph.D. Assistant Professor Department of Laboratory Medicine University of... More


Tuesday 16th October 2018

Registration opens: 8:00 am 

Meeting begins: 9:00 am

Meeting Ends: 4:00 pm (in time for ASHG Plenary)


The HGVS Meeting will be held in Room 30CD, Upper Level of the San Diego Convention Centre, thus there is ample time to get to the ASHG Plenary session after the meeting.


San Diego Convention Center
111 West Harbor Drive
San Diego
California United States 92101

Event Organiser

Rania Horaitis

Email Organiser