Clinical Interpretation of Variants from Next-Generation Sequencing

Friday, 20 May 2016 from 8:30 AM - 5:00 PM

Hotel Vincci Maritimo, Spain

 

Clinical Interpretation of Variants from Next - Generation Sequencing

Friday 20th May 2016

Barcelona, Spain

Event immediately prior to the ESHG meeting

 

 

Next Generation Sequencing (NGS) technologies already have demonstrated clinical utility in many areas of medicine and promise to dramatically expand new and existing aspects of genetic research in disease diagnosis, risk and treatment. This meeting will explore multiple aspects of the clinical use of NGS, including whole exome and genome studies in inherited disorders, genomic analysis of somatic tissues, and issues of interpretation and standards of genetic variation for clinical use.

 

Invited Speakers 

The 100,000 genomes project

Tim Hubbard

Head of Genome Analysis, Genomics England, & Head of Department of Medical &

Molecular Genetics Director of Bioinformatics King's Health Partners/King's College London, Faculty of Life Sciences & Medicine, King's College London

 

Are we done with variant calling?

Ivo Gut

Director, CNAG, Barcelona, Spain

 

Variants annotation and filtration in NGS context (exact title TBC)

David Salgado

NGS Team Manager at UMR_S910 - Aix-Marseille Université, France

 

Ethical issues of NGS and diagnosis of human genetics diseases

Heidi Howard 

Centre for Research Ethics & Bioethics (CRB), Uppsala University, Sweden


Ethical and legal issues for NGS analysis (exact title TBC)

Mats Hansson* 

 

 

*TBC = To be confirmed

More speakers to be announced soon once confirmed 

 

Abstracts

ABSTRACT SUBMISSION HAS CLOSED.

Closing Date Extended to 8th March 2016 (no further extensions to be made!)

We invite abstracts to be submitted to the meeting within the theme of clinical interpretation of variants from next generation sequencing 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 see the Abstract tab above for instructions on formatting and how to submit.


You do not need to submit an abstract to attend.

 

Scientific Programme Committee


Christophe Beroud, INSERM Marseille, France
Anthony Brookes, Univ. of Leicester, UK
Alastair Brown, Edinburgh, UK
Marc Greenblatt, Univ. of Vermont, USA
Andreas Hadjisavvas, CING, Nicosia, Cyprus
William Oetting, Univ. of Minnesota, MN, USA
Peter Taschner, LUMC, Leiden, Netherlands

 

Venue

Hotel Vincci Maritimo

Calle Llull, 340, 08019 Barcelona, Spain

300 metres from Selva de Mar metro station. 2 minute walk to CCIB where ESHG will be held.

 

Schedule

Friday 20th May 2016

  • Registration opens 8.00 am 
  • Meeting begins 9.00 am
  • Meeting ends 5.10 pm


Registration

Registration includes access to the conference, administrative costs eg room rental, AV etc, coffee breaks, and lunch.

The fees are in Euro.


EARLYBIRD: until 10th April 2016

HGVS Member: Euro 110  (you can join while registering if not a member US$50 [Euro 47])
Non-member: Euro 135

REGULAR: from 11th April 2016 to onsite

HGVS Member: Euro 135
Non-member: Euro 160


If you are not a HGVS member, why not join the Society now while you are registering and you automatically receive the discount.
 

Accommodation


If you are attending the ESHG meeting, you may use their accommmodation booking service to book your room. 

 

Questions?

Contact Us via the Contact Us Webpage.