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Methods and Tools for Assessing the Impact of Genetic Variations

A scientific meeting of the Human Genome Variation Society

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

Both researchers and clinicians are awash in full exome and genome sequences, with the myriad of variants they harbor. For some purposes, well-studied variants provide research insight and clinical resolutions. But more often, the variants’ roles are not conclusively known from previous studies, and therefore methods are necessary to help inform their phenotypic impact. The 2017 scientific meeting of the Human Genome Variation Society will present cutting-edge research and practical approaches involving methods for interpreting human genetic variants.

Abstracts - Close 30th August 2017

Sorry, abstract submission has closed.

We invite abstracts to be submitted to the meeting within the theme of Tools to predict the effects of variants 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.



Mark Gerstein, Yale:  Prioritizing somatic variants

Weiva Sieh, Mount Sinai, NY:  Predicting the Pathogenicity of Rare Missense Variants


Christophe Beroud, Aix-Marseille Univ., Marseille: Human Splicing Finder

Rachel Karchin, Johns Hopkins:  Evaluating the Evaluation of Cancer Driver Genes

Predrag Radivojac, Indiana Univ.: Predicting the molecular mechanisms of genetic disease for protein coding variants

Sean Tavtigian, Univ. of Utah: Validating and Calibrating Computational and Functional Approaches in BRCA and MMR


Beroud, Christophe

Professor, Genetics and Bioinformatics, Aix-Marseille University, Marseille, France
Professor Christophe Béroud (PharmD, PhD) has 27 years' experience in research laboratories... More

Gerstein, Mark

Prof of Biomedical Informatics & Prof of Molecular Biophysics & Biochemistry, & of Computational Biology & Bioinformati, Yale University
After graduating from Harvard summa cum laude with a A.B. in physics in 1989, Prof. Mark... More

Karchin, Rachel

Associate Professor The William R. Brody Faculty Scholar Institute for Computational Medicine, Johns Hopkins Biomedical Engineering
Associate Professor The William R. Brody Faculty Scholar Institute for Computational Medicine ... More

Radivojac, Predrag

Professor of Computer Science & Adjunct Professor of StatisticsĀ , Department of Computer Science, Indiana University
SPEAKER TO BE CONFIRMED Biography - To be announced. 

Sieh, Weiva

Associate Professor | Population Health Science and Policy & | Genetics and Genomic Sciences, Mt Sinai
Dr. Sieh’s research focuses on identifying genetic and epidemiologic factors underlying... More

Tavtigian, Sean

Associate Professor, Oncological Sciences, Huntsman Cancer Institute, Salt Lake City, UT
Research Description Research in my lab concentrates on two areas of genetic susceptibility to... More


Tuesday 17th October 2017

Registration opens: 8.00 am 

Meeting begins: 9.00 am

Meeting Ends: 4.00 pm (in time for ASHG Plenary)


Lake Nona room, Lobby Level


Hilton Orlando
6001 Destination Parkway
Florida United States 32819

Event Organiser

Rania Horaitis

Email Organiser