Skip to content


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 5th September 2019

We invite abstracts to be submitted to the meeting within the theme of "Gentypes and Intermediate Phenotypes" 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 & Topics

Garry Cutting (Johns Hopkins)

"Cystic Fibrosis and intermediate phenotypes"


Stanley Nelson (UCLA)*


David Craig (USC)


Stephen Montgomery (Stanford)


Jonathan Pritchard (Stanford)


Marylyn Ritchie (Univ. of Pennsylvania)


Kaitlin Samocha (Wellcome Sanger)


Brian Shirts (Univ.of Washington)


*= 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

Cutting, Garry

Professor of Pediatrics and Medicine and the Aetna/U.S. Healthcare Professor of Medical Genetics, Johns Hopkins University School of Medicine
Garry R. Cutting, MD Dr. Garry Cutting is Professor of Pediatrics and Medicine and the... 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: 3:00 pm  (gives you 30 mins to get to ASHG Opening Address nearby)

Never Miss an Announcement!

Subscribe to our genomics meeting mailing list

Questions about this genomics meeting?