Skip to content

14th International Symposium on Variants in the Genome

Monday, 5 June 2017 to Wednesday, 7 June 2017 from 11:00 AM - 5:00 PM

NH Collection Santiago de Compostela, Santiago de Compostela, Spain


NOTE 24 OCT 18:  The next meeting will be held in Slovenia in 2019.  The new website shall be available very soon!


Variant Detection 2017: bringing you the very best in human genetics related to variant detection, sequencing, and interpretation

The 14th International Symposium on Variants in the Genome: detection, genome sequencing and interpretation is also known by the short name of Variant Detection 2017.   The first meetings in this series starting in 1991 in Oxford focussed on methodology developed to find mutations/variants in DNA. In the 25 years that have passed since, we find cheaper and cheaper methods being used to do the  same but more sensitive, more effective and much faster. In addition, due to the enormously decreased sequencing cost, methodology concentrated in one main method; sequencing. Consequently, attention and interest has shifted from detecting to evaluating variants; do they effect the health of the individual?

If you want to learn from and meet world class speakers who will present the very best in human genetics related to variant detection, sequencing, and interpretation then you cannot afford to miss this conference. You will learn about new genomic technologies, be updated on the BRCA Challenge, interpret variants and phenotype ontologies, and find out the latest advances in forensic genetics and pharmacogenomics. This is known as a friendly meeting, you will meet and network with colleagues from around the world at the many social opportunities provided throughout the conference. You will have a hands-on opportunity to learn or update your skills in Alamut and you will find out the latest technologies from PacBio, LGC, Agena Bioscience, BioNano Genomics, Sophia Genetics, 10x Genomics, Phenosystems and Saphetor.

We therefore invite you to submit your abstracts as soon as possible, and encourage  you to travel to Santiago de Compostela for this dynamic meeting. 

Prof. Johan T. den Dunnen


Scientific Programme Committee

Prof. Johan T. den Dunnen (Leiden, Nederland) CHAIR

Prof. Sir John Burn (Newcastle, UK) 

Prof. Angel Carracedo (Santiago de Compostela, Spain)

Dr Reece Hart (San Francisco, CA, USA)

Dr Andreas Laner (Munich, Germany)

Dr Maria-Jesus Sobrido (Santiago de Compostela, Spain)


Invited Speakers

We are honoured to present our distinguished invited speakers.  Link to list showing invited spekaers and their topic of presentation here. 


Faisal Alquaddoomi (ETH Zurich, Switzerland)

Swaroop Aradhya (ACMG/ClinGen Structural Variant Working Group)

Sir Prof. John Burn (Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK)

Angel Carracedo (University of Santiago de Compostela, Galicia, Spain)

Peter Donnelly (Wellcome Trust Centre for Human Genetics, Oxford, UK)

Joaquin Dopazo (Fundacion Progreso y Salud, Clinical Bioinformatics Research Area, Sevilla, Spain)

Ivo Gut (Centro Nacional de Análisis Genómico, CNAG-CRG, Barcelona, Spain)

Johan T. den Dunnen (Leiden Univ. Medical Center, Leiden, Netherland)

Reece Hart (Invitae, San Francisco, USA)

Andreas Laner (Medizinisch Genetisches Zentrum, Munich, Germany)

Mabel Loza (University of Santiago de Compostela, Galicia, Spain)

Walther Parson (President International Society of Forensic Genetics, , Institute of Legal Medicine, Innsbruck, Austria)

Chris Phillips (University of Santiago de Compostela, Galicia, Spain)

Gunnar Rastch (ETH Zurich, Memorial Sloan-Kettering Cancer Center, Weill Cornell Medical College)

Guna Rajagopal (Global head of Computational Sciences in Janssen's small molecule Drug Discovery Sciences organization, Gent, Belgium)

Peter Robinson (Computational Biology Group at the Jackson Lab. for Genomic Medicine, Farmington CN, USA)

Maria - Jesus Sobrido (Instituto de Investigaciones Sanitarias de Santiago / Fundación Pública Galega de Medicina Xenómica (IDIS/FPGMX))

Jordi Surrallés Calonge (Universitat Autònoma de Barcelona, Catalunya, Spain)

Claire Turnbull (Genomics England, Queen Mary University of London and Institute of Cancer Research, London, UK)

Organising Committee

Maria Torres (CEGEN-PRB2, Universidade de Santiago de Compostela)

Rania Horaitis Event Manager, Meeting Makers



This meeting is intended to provide all participants with an opportunity to contribute and learn so we strongly encourage you to submit an abstract although it is not necessary to do so.

A final progam will be released once the abstracts have been reviewed.  You can see invited speakers and their topics here. 

View the final program here.  Last Update 12 May 17.

Professor Sir John Burn talks about what you can expect from the BRCA Challenge session here


Dr Andreas Laner talks about variant interpretation and classification and what you can expect at the upcoming meeting:



Abstract submission has closed.

We invite submission of abstracts for both oral and poster presentations. Please follow the instructions on the Abstracts page of this website. 

Abstract submission to be considered for oral presentations closed on 28th February 2017.

We are still welcoming abstracts for POSTER presentation only until 31st March 2017.

You do not need to submit an abstract to attend but we encourage you to do so.


Where is the venue?

Santiago de Compostela, a UNESCO World Heritage city is easy to reach. Santiago de Compostela airport (SCQ) is 11km east of the city and has international and domestic flights. Many European airlines operate direct flights into this airport. Click here to find out more.


NH Collection Santiago
Avenida do Burgo das Nacions
15705 Santiago de Compostela
A Coruña, Spain

Official Tourism Website here.



We have a wonderful program arranged. Access to all sessions/workshops and lunches are included in your registration fee.

Monday 5th June 2017

Registration 8.00 am - 10.30 am

2 x Pre-meeting Workshops 9.00 am - 10.40 am

Official Opening - 11.00 am sharp

Welcome Reception NH Collection Santiago Hotel 19.00 - 20.30

Tuesday 6th June 

Meeting Continues 8.30 - 18.00

Wednesday 7th June

Meeting Continues 8.30 

Meeting Ends 17.00



We have secured LIMITED numbers of accommodation rooms at excellent rates at the 4* NH Collection Santiago, the conference venue. You may book this during the registration process. If rooms at the venue are sold out on our website you may book directly with the hotel or a hotel booking engine. Find our more details here.  There are many other hotels of varying costs and standards available in the city.

From 31st March 2017 rooms at the conference hotel will no longer be available.  We must give unsold rooms back to the hotel so we cannot hold them any longer!  

Invitation Letters for VISA etc.

We are UNABLE to send invitation letters for VISA applications unless a fully paid registration is received from a delegate from a legitimate scientific institution. We will be CHECKING all invitation letter applications. PLEASE do not waste your time or our time if you are not a legitimate delegate as we WILL NOT SEND YOU A LETTER!


Why should you attend?

Join us in Variant Detection 2017 Santiago de Compostela and:

- Grow as an individual in your profession

- Enjoy peer to peer learning

- be amongst like-minded individuals

- mingle and connect with distinguished human geneticists

- Live the vibes of this spirited university city

- Prepare to learn but also to exchange ideas

- Combine a prime opportunity for professional education and development with the added benefits of:

.The beautiful UNESCO World heritage city; one of the most beautiful of all Spanish cities

.Traditional Spanish hospitality

. A dynamic meeting destination

. A safe and easy going city


Platinum Sponsors

PacBio logo           LCG logo     astrazeneca logo




Gold Sponsors


Agena logo

    Interactive Biosoftware logo     Sophia Genetics logo Qiagen logo



Silver Sponsors


BioNano Genomics logo

                   10x Genomics logo   Illumina logo





Bronze Sponsors


phenosystems logo          Saphetor logo



Tin+ Sponsor

Reference Laboratory Genetics Logo





Leiden Genome Tech Center logo                     Servizo Galego de Saude logo     MGZ logo