The Human Variome Project International, Santiago de Compostela, Spain
5th - 8th June 2017

Programme

The detailed draft program may be found on the website. 

http://isv.variome.org/ 

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

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 opportuities provided throughout the conference. You will have a hands-on opportunity to learn or update your skills in and you will find out the latest technologies from leading technology providers.

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. 

Scientific Programme Committee

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

Prof. Sir John Burn (Newcastle, UK) 

Prof. Angel Carrcedo (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

A systematic framework for the clinical interpretation of chromosomal copy number variants
Swaroop Aradhya
On behalf of the ACMG/ClinGen Structural Variant Working Group


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

Challenges in bioinformatics for genetic diagnosis
Angel Carracedo
University of Santiago de Compostela, Galicia, Spain

Title TBA
Peter Donnelly
Wellcome Trust Centre for Human Genetics, Oxford, UK

Cancer genome sequencing and its applications
Ivo Gut
Fundacio Privada Parc Cientific de Barcelona, Barcelona, Spain

Applications of long-read single molecule sequencing in DNA diagnostics
Johan T. den Dunnen
Leiden Univ. Medical Center, Leiden, Netherland

Genetic Variant Interpretation Workshop
Reece Hart
Invitae, San Francisco, USA

Next Generation Variant Interpretation - Challenges and Prospects & Genetic Variant Interpretation Workshop
Andreas Laner
Medizinisch Genetisches Zentrum, Munich, Germany

INNOPHARMA: the Pharmacogenomics platform of the University of Santiago de Compostela
Mabel Loza
University of Santiago de Compostela, Galicia, Spain

Naming Genetic Variation in Forensic Science: Alignment and Nomenclature of Next Generation Sequence Alleles
Walther Parson
President International Society of Forensic Genetics, Penn State University, USA

Recent advances in forensic genetics
Chris Phillips & Angel Carracedo
University of Santiago de Compostela, Galicia, Spain

BRCA exchange: a one stop shop for diagnosis
Gunnar Rastch*
ETH Zurich, Memorial Sloan-Kettering Cancer Center, Weill Cornell Medical College

A global solution to variant classification (title to be confirmed)
Nazeen Rahman
Division of Genetics and Epidemiology at The Institute of Cancer Research and
Head of the Cancer Genetics Clinical Unit at The Royal Marsden NHS Foundation Trust, UK

Personalised medicine & pharmacogenomics (title TBC)
Guna Rajagopal 
Global head of Computational Sciences in Janssen's small molecule Drug Discovery Sciences organization, Gent, Belgium

 The use of ontologies for genotype-phenotype correlation
Peter Robinson*
Computational Biology Group at the Jackson Lab. for Genomic Medicine, Farmington CN, USA

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


Fanconi & the BRCA2 double heterozygotes story (title TBC)
Jordi Surrallés Calonge
Universitat Autònoma de Barcelona, Catalunya, Spain

Other invited speakers to be advised

*invited but not yet confirmed
 

You can see the information about registration on the website.

http://isv.variome.org/