Corporate Satellites

NGS Data Analysis and Annotation Workshop

BIOBASE Satellite

Adding Value Through Analysis - a unique Next Generation Sequencing Service providing meaningful results, not insurmountable data

Oxford Gene Technology Satellite

14.00 - 15.30

Educational Sessions

ES1. Mitochondrial diseases and Neonatal screening

ES1.1 Mitochondrial diseases
Patrick F. Chinnery, Newcastle upon Tyne, United Kingdom

ES1.2 Neonatal screening for inherited diseases
Ulrika von Döbeln, Huddinge, Sweden

ES2. HNPCC, BRCA1 & 2

ES2.1 Lynch syndrome (HNPCC)
Elisabeth Mangold, Bonn, Germany

ES2.2 BRCA1 and BRCA2 cancer susceptibility: from bench to bedside
Dominique Stoppa-Lyonnet, Paris, France

ES3. eQTLs & GWAS

ES3.1 eQTL
Lude Franke, Groningen, The Netherlands

ES3.2 GWAS
Carl Anderson, Cambridge, United Kingdom

14.00 - 15.30

Corporate Satellites

Optimising aneuploidy detection in the human preimplantation embryo using 24sureTM

BlueGnome Satellite

Complete Human Genome Sequencing for Large-Scale Disease Studies

Complete Genomics Satellite

Accelerated diagnostics with next-gen sequencing, mastering a complete workflow

Multiplicom Satellite

Third Generation Sequencing with the PacBio RS

Pacific Biosciences Satellite

16.00 - 16.30

Opening - Welcome Adresses

16.30-18.00

PL1 Opening Plenary Session

PL1.1 How next generation sequencing changes the practice of medicine
Han Brunner, Nijmegen, The Netherlands

PL1.2 Unraveling the Dutch genome in health and disease
Cisca Wijmenga, Groningen, The Netherlands

PL1.3 LGR5 stem cells in health and disease
Hans Clevers, Utrecht, The Netherlands

Coffee Break

18.30 - 20.00

Plenary Session PL2: What's New?

PL2.1 De novo balanced chromosomal rearrangements have high risk of neurodevelopmental and psychiatric disorders.
C. Halgren, I. Bache, N. M. Nielsen, S. Kjaergaard, K. Brøndum-Nielsen, P. K. A. Jensen, C. Fagerberg, L. N. Krogh, M. Frisch, J. Hansen, T. Bryndorf, N. Tommerup

PL2.2 Development and validation of non-invasive prenatal diagnostic test for trisomy 21
E. A. Papageorgiou, A. Karagrigoriou, E. Tsaliki, V. Velissariou, N. P. Carter, P. C. Patsalis

PL2.3 mRNA-Seq analysis of monozygotic twins discordant for Trisomy 21 reveals large chromosomal domains of gene expression dysregulation
A. Letourneau, S. B. Montgomery, D. Gonzalez, C. Borel, D. Robyr, E. Migliavacca, Y. Hibaoui, L. Farinelli, M. Gagnebin, E. Falconnet, S. Deutsch, S. Dahoun-Hadorn, J. L. Blouin, A. Feki, R. Guigo, E. T. Dermitzakis, S. E. Antonarakis

PL2.4 Next-generation sequencing in >240 families with X-linked intellectual disability
V.M. Kalscheuer, H. Hu, S. Haas, J. Chelly, H. Van Esch, M. Raynaud, S. G. M. Frints, A. de Brouwer, J. Gecz, S. Weinert, T. Zemojtel, M. Love, M. Froyen, F. Laumonnier, H. Richard, A.K. Emde, M. Bienek, C. Jensen, M. Hambrock, N. Lebrun, M. Corbett, C. Tan, C.E. P. van Rozendaal, M. Pocquet, N. Ronce, R. Sun, A. Hackett, M. Field, E. Haan, J. Nelson, G. Turner, G. Baynam, G. Gillessen-Kaesbach, U. Mueller, B. Budny, M. Badura-Stronka, A. Latos-Bieleńska, M. Cohen, T. Kleefstra, R. Ullmann, P. Wieacker, A. Dufke, G.R. Criado, M.L. Bondeson, H. van Bokhoven, A. Tzschach, K. Wrogemann, T. Jentsch, W. Chen, H.H. Ropers

PL2.5 Identification of the gene underlying Congenital Short Bowel Syndrome, pointing to its major role in intestinal development
C. S. van der Werf, T. D. Wabbersen, N. Hsiao, J. Paredes, H. C. Etchevers, P. M. Kroisel, C. Babarit, D. Tibboel, R. A. Schreiber, E. J. Hoffenberg, M. Vekemans, S. L. Zeder, I. Ceccherini, S. Lyonnet, A. S. Ribeiro, R. Seruca, G. J. te Meerman, S. C. D. van IJzendoorn, I. T. Shepherd, J. B. G. M. Verheij, R. M. W. Hofstra

PL2.6 HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
M. McCormack, A. Alfirevic, S. Bourgeois, J. F. Farrell, D. Kasperavičiūtė, M. Carrington, G. J. Sills, T. Marson, X. Jia, P. I. W. deBakker, K. Chinthapalli, E. Udragene Collaborators, M. Molokhia, M. R. Johnson, G. D. O'Connor, E. Chaila, S. Al Husaini, K. V. Shianna, R. A. Radtke, E. L. Heinzen, N. Walley, M. Pandolfo, W. Pichler, B. K. Park, C. Depondt, S. M. Sisodiya, D. B. Goldstein, P. Deloukas, N. Delanty, G. L. Cavalleri, M. Pirmohamed

20.00 - 21.30

Welcome Reception at the Amsterdam RAI