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 

NGS for clinical purposes, in the context of Genomics England Ltd. (exact title TBC)

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


NGS analysis of tumoral samples

Ivo Gut*

Director, CNAG, Barcelona, Spain

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

Mats Hansson* 


EU recommendations about NGS use in clinical practice (what should be done and reported (exact title TBC) 

Gert Matthijs*

Head of the Laboratory for Molecular Diagnostics, Prof. at Univ. of Leuven

K.U.Leuven, Center for Human Genetics/ Centrum Menselijke Erfelijkheid, Leuven, Belgium


*TBC = To be confirmed

More speakers to be announced soon once confirmed  - topics will cover:

Variants annotation and filtration in NGS context

100K UK genome project

Compare genome vs. exome in clinical practice

4th generation of NGS technologies: promise and consequences 

& more



Closing Date 1st March 2016

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



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.



Friday 20th May 2016

  • Registration opens 7.45 am 
  • Meeting begins 8.30 am
  • Meeting ends 5.00 pm


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.


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



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