The Human Variome Project International, Santiago de Compostela, Spain
5th - 8th June 2017
ProgrammeThe 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 interpretationIf 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.
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Invited Speakers:
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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 SpeakersA 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
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