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Earlybird Ends 31st August

Close 15th August


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 15th August 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.



CSER (Clinical Sequencing Exploratory Research) Initiative - Brian Shirts

Informatics & Phenotype - Marylyn Ritchie

Fast Healthcare Interoperability Resource - Atul Butte

Topic TBA - Melissa Haendel

EHR and Genomics to Find Mendelian Disease - Lisa Bastarache

More topics to be added soon!



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 Priscilla Chan and Mark Zuckerberg Distinguished Professor UCSF School of Medicine Pediatrics, UCSF School of Medicine
TO BE CONFIRMED. Atul Butte, MD, PhD is the Priscilla Chan and Mark Zuckerberg Distinguished... 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: 7:30 am 

Meeting begins: 8:30 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