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It is with great regret the HGVS event at ASHG has been cancelled.

The change in the ASHG schedule that has the main meeting start at 1:00 PM forced us to contract to a half-day and a very early start. Other competing events at the same time have also had a negative impact on our event leaving us with no choice but to cancel.

We apologise for the inconvenience.

If you have registered you will receive a refund soon.


A scientific meeting of the Human Genome Variation Society

Satellite meeting to the American Society of Human Genetics' annual meeting.

Genotype-phenotype correlations have long been an area of interest in genetic research. A subset of this topic involves “Intermediate phenotypes” or “endophenotypes”, which are heritable biological traits within complex conditions that are measurable and relate to the mechanism of the full heritable condition. They have been a source of ongoing study in neuro-psychiatric illness, cystic fibrosis, obesity, and other diseases. Intermediate phenotypes have been used to aid gene discovery and in the interpretation of GWAS studies of complex phenotypes. This meeting will explore new data on Intermediate Phenotypes in these contexts.



Scientific Program Committee

  • Steven E. Brenner
  • Marc Greenblatt (Burlington, VT, USA)

Abstracts - Close 15th September 2019

We invite abstracts to be submitted to the meeting within the theme of "Genotypes and Intermediate Phenotypes".  Due to the early start of the ASHG meeting this year two to three selected abstracts within the theme will be given the opportunity to present in a rapid-fire presentation. These abstracts may also present a poster during the coffee break. Due to time limitations, all other abstracts can be accepted as poster presentations only. Abstracts within the theme will be given priority presentations. Please follow instructions on the Abstract page.

Keynote Speakers & Topics

David Craig (USC)


Stephen Montgomery (Stanford)

"Using gene expression to interpret common and rare genetic disease"


Stanley Nelson (UCLA)*


Jonathan Pritchard (Stanford)

"Trans-regulation of gene expression can drive omnigenic inheritance of human complex traits"


Marylyn Ritchie (Univ. of Pennsylvania)

"Exploring the relationship between the genome and the phenome through PheWAS"


Kaitlin Samocha (Wellcome Sanger)


Brian Shirts (Univ.of Washington)

"Using cosegregation analysis and other family data to evaluate intermediate phenotypes"


*= To be Confirmed



Meet our invited speakers

Craig, David

Professor of Translational Genomics;Co-Director, Institute of Translational Genomics, USC Keck School of Medicine
David Craig serves as Vice-Chair of USC's new Department of Translational Genomics (... More

Montgomery, Stephen

Associate Professor, Pathology and Genetics, Stanford University School of Medicine
Academic Appointments Associate Professor, Pathology Associate Professor, Genetics ... More

Nelson, Stanley F.

Professor, UCLA
Stanley F. Nelson, MD is Professor and Vice Chair of Human Genetics and Professor of Psychiatry... More

Pritchard, Jonathan

Professor of Genetics and of Biology, Stanford University

Ritchie, Marylyn

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

Samocha, Kaitlin

Postdoctoral Fellow, Wellcome Sanger Institute
Kaitlin is currently a postdoctoral fellow involved with both the Deciphering Developmental... More

Shirts, Brian

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

Where will the meeting be held?


Room : Lanier Ballroom DE, Level 4

600 Lamar Street


Texas, USA

(connected to George R. Brown Convention Center where ASHG will be held)


Tuesday 15th October 2019

Registration opens: 7:15 am 

Meeting begins: 8:00 am

Meeting Ends: 12:00 pm  (gives you time to get to ASHG sessions nearby)

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