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.

Earlybird Registration Ends 17th August 2017!

Abstracts - Close 16th August 2017

CLOSING DATE - 16th AUGUST 2017  (no extensions)

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.

Topics

 

Human Splicing Finder

Variant Effect Predictor (EBI)

Clinical Relevance of In Silico Tools to assess variants (VEST-Indel, other)

Validating and Calibrating Computational and Functional Approaches in BRCA and MMR

REVEL

Other topics TBA

Speakers

Speakers to be announced

Schedule

Tuesday 17th October 2017

Registration opens: 7.45 am 

Meeting begins: 8.30 am

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

Register your Interest

Register your interest in attending and be informed about abstracts closing, program updates etc. Alternatively, if you are not on our mailing list and wish to join to find out about meetings such as this one please fill out the form (we do not disclose to 3rd parties and you can unsubscribe at any time)


 

Location

Nearest Train & Subway Station: TBA

Venue

To be announced
A hotel near Orange County Convention Centre
Orlando
Florida United States


Event Organiser

Rania Horaitis


Email Organiser