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Significant advances have been made in recent years in the assessment and interpretation of the non-coding DNA that comprises 98% of our genome. Researchers both within and outside of the ENCODE project are studying gene regulation and expression, non-coding RNA, and other non-coding genome genome functions using multiple data sets and wide-ranging methods including in vitro, high-throughput, statistical, machine learning, and other computational analyses. This year’s meeting will explore these studies and the effects of genetic variation on human disease and other phenotypes.



Functional Characterization of Gene Regulatory Elements - Nadav Ahituv

Local and distant regulatory effects of genetic variation in 44 human tissues in the GTEx project - Barbara Engelhardt

The genomics of human physiological adaptation - Rasmus Nielsen

Massively Parallel Functional Analysis of Missense Mutations In BRCA1 for Interpreting Variants of Uncertain Significance - Lea Starita

TBA - Olga Troyanskaya

Functional Assays as a Tool for Clinical Annotation of BRCA1 VUS - Nicholas Woods

Genetic variations in the regulation of alternative splicing - Xinshu (Grace) Xiao


Tuesday 18th October 2016

Registration opens: 7.45 am 

Meeting begins: 8.20 am

Meeting Ends: 3.45 pm (in time for the ASHG Plenary session).


Ahituv, Nadav

PhD, Department of Bioengineering and Therapeutic Sciences, UCSF
Functional Characterization of Gene Regulatory Elements The Ahituv lab is focused on... More

Engelhardt, Barbara

Assistant Professor, Princeton University
Barbara Engelhardt, an assistant professor, joined the department in 2014 from Duke University... More

Nielsen, Rasmus

Professor, UC Berkeley
Rasmus Nielsen’s research focuses on statistical and computational aspects of... More

Starita, Lea

Senior Scientist, University of Washington
Lea is a senior scientist with Jay Shendure in the Genome Sciences department at the... More

Troyanskaya, Olga

Professor, Department of Computer Science and Lewis-Sigler Institute of Integrative Genomics,... More

Woods, Nicholas T.

Assistant Professor Director of Proteomics and Systems Biology, University of Nebraska Medical Center, Eppley Institute for Research in Cancer, Fred & Pamela Buffett Cancer Center, Oma
Research Interests Protein-Protein Interactions: Dysregulation of the DNA damage response in... More

Xiao, Xinshu (Grace)

Professor, UCLA Department of Integrative Biology and Physiology
Professor Integrative Biology and Physiology, Molecular Biology Institute, Bioinformatics... More



Sorry - Abstract Submission has closed.

We invite abstracts to be submitted to the meeting within the theme of Non-Coding Variation 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 follow instructions on the Abstract page.



HGVS Member

This category is available for HGVS members only. You may join the Society during the registration process here if you like. The cost is US$50 (CAD $64.00).

  • HGVS Member: Delegate Registration


Not - HGVS Member

Delegates who are not members of the Society and who do not wish to join should register in this category.

  • Non-Member: Delegate Registration



HGVS has not contracted any accommodation however you can book rooms via:

(a) GA4GH at the Marriott Pinnacle (special rate) upto and including the night of 17th Oct.

(b) The ASHG accommodation booking service if you are attending their meeting also. 



Fairmont Waterfront Hotel
Waterfront Ballroom C, Lobby C
900 Canada Place Way
British Columbia Canada V6C 3L5

Event Organiser

Rania Horaitis

Email Organiser