Et voici le programme en anglais:

9H00  Registration / coffee

9H15  Introduction of the day

9H30   KEYNOTE LECTURE 1: Joris Veltman (N): EXOME SEQUENCING IDENTIFIES DISEASE CAUSING DE NOVO MUTATIONS, Department of Human Genetics – Radboud University Nijmegen Medical Centre – Nijmegen, The Netherlands

10H15   Jean Muller (F): MULTI-GENE RESEQUENCING FOR MOLECULAR DIAGNOSIS OF OBESITY, Integrative Genomics and Bioinformatic Laboratory (IGBMC) – Genetic Diagnostic Laboratory – Strasbourg, France

10H45   Coffee break

11H15   Amélie Bonnefond (F): NEW TECHNOLOGIES IN GENE RESEQUENCING AND IN METHYLOME ANALYSIS, Department of Genomics and Metabolic Diseases – CNRS UMR8199 & Institut de Biologie de Lille – Institut Pasteur – Lille, France

11H45   Didier Goidin (F): LAST DEVELOPMENT OF AGILENT NGS SOLUTIONS, Agilent R & D – Les Ulis, France

12H15  Sean Humphray (UK): SEQUENCING FOR GENOMIC MEDICINE, Illumina R & D – Chesterford, United Kingdom

12H45  Lunch

14H00  Ludovic Dupont (F): FRENCH FOUNDATION FOR RARE DISEASES: STRUCTURE, MISSIONS, ACHIEVEMENTS AFTER ONE YEAR OF EXISTENCE French Foundation for rare diseases – Paris, France

14H15  KEYNOTE LECTURE 2: Nicolas Lévy (F): THE GENOMICS AND POST GENOMICS OF RARE DISEASES: THE PROGERIA CASE, Department of Medical and Development Genetics Inserm U910   Faculté de médecine de la Timone & Department of Medical Genetics – Hôpital d’enfants de la La Timone – Marseille, France

15H00  Wim Van Criekinge (B): NEXT GENERATION EPIGENETIC PROFILING, Center in Pharmaco(epi)genomics NXTGNT (www.nxtgnt.com)   Department of Mathematical Modelling, statistics and Bioinformatics – Ghent University – Gent, Belgium

15H30  Alexandra Lespagnol (F): TARGETED HIGH-THROUGHPUT SEQUENCING FOR SOMATIC ANALYSIS  ON FORMALIN-FIXED, PARAFFIN-     EMBEDDED (FFPE) TUMOR SAMPLES, Plateforme  Hospitalière de Génétique Moléculaire des Cancers, CHU Pontchaillou – Rennes, France

16H00  Coffee break

16H30  KEYNOTE LECTURE 3: Jacques Beckmann (S): COPY NUMBER VARIANTS AND THEIR ROLE IN DISEASES

17H15  Conclusive remarks