Saturday, May 21, 2016
08.00 | Registration opens |
10.30 - 12.00 | Educational Sessions 1-4 |
E1. Novel genome sequencing technologies (Plenary Hall)E01.1 Long-read sequencing of complex genomes E01.2 Nanopore sequencing E2. Genetic Privacy and Data Sharing joint with EMPAG (Room 115+116)E02.1 The hitchhiker‘s guide to genome hacking E02.2 The role of policy in navigating the privacy landscape and promoting responsible genomic data sharing E3. Generation and use of induced pluripotent stem cells (Room 111)E03.1 Induced pluripotent stem cell-based studies: challenges and promises E03.2 Direct reprogramming for studies of aging and neurodegeneration E4. Peroxisomal disorders - still a need for metabolic assays? (Room 122+123)E04.1 Overview of peroxisomal disorders - diagnosis and management E04.2 The value of phenotypic assays in peroxisomal disorders |
10.30 - 12.00 | Workshops WS01-WS04 - Click on the titles to see detailed programmes |
W01. Big data in human genetics: opportunities and challenges? (Room 112) | |
12.00 - 14.00 | Free Poster Viewing - Lunch Break |
12.00 - 14.00 | Free poster viewing - Lunch break |
12.15 - 13.45 | Corporate Satellites |
14.00 - 14.30 | Opening - Welcome Adresses (Plenary Hall) |
14.30 - 16.00 | PL1 Opening Plenary Session (Plenary Hall) |
PL1.1. RAS genes and Human Disease: From Rasopathies to Cancer PL1.2 The Spanish Experience of Retinal Dystrophies PL1.3 Deconstructing cancer and aging in the genomic era | |
16.00 - 16.30 | Coffee Break |
16.30 - 18.00 | Plenary Session PL2: What's New? Highlight Session (Plenary Hall) |
PL2.1 Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies Claire Redin*, H. Brand, R.L. Collins, C.H. Hanscom, V. Pillalamarri, T. Kammin, E. Mitchell, J.C. Hodge, S. Schilit, B.B. Curall, S. Pereira, C. Seabra, M. Stone, W. Lawless, D. Lucente, C. Antolik, R. Hochstenbach, I. Renkens, E. Brilstra, S. Vergult, B. Menten, S. Janssens, B. Callewaert, A. D’heedene, M. D’hooghe, F. Roelens, J. van de Kamp, A. Nieuwint, P.J. Poddighe, C. van Ravenswaaij-Arts, P. Rump, T. van Essen, J. Freixo, D. Deszo, E.C. Liao, N. de Leew, H.G. Brunner, W. Kloosterman, E.C. Thorland, C.C. Morton, J.F. Gusella, M.E. Talkowski; PL2.2 Formation and content of novel chromatin domains (neo-TADs) determine pathogenesis of genomic duplications Martin Franke*, D.M. Ibrahim, G. Andrey, W. Schwarzer, V. Heinrich, R. Schöpflin, R. Kempfer, I. Jerkovi?, W. Chan, M. Spielmann, B. Timmermann, L. Wittler, I. Kurth, P. Cambiaso, O. Zuffardi, G. Houge, L. Lambie, F. Brancati, A. Pombo, M. Vingron, F. Spitz, S. Mundlos; PL2.3 Mutations in ACTRT1 and its transcribed non-coding elements lead to aberrant activation of the Hedgehog signaling pathway in inherited and sporadic basal cell carcinomas Elodie BAL*, Z. Belaid-Choucair, H. Kayserili, M. Naville, M. Madrange, C. Gordon, clinical investigators, G. Gyapay, S. Fraitag, H. Roest Crollius, A. Munnich, P. Vabres, A. Smahi; PL2.4 De novo mutations MSL3 gene cause a new recognizable syndrome A. Bruel, I. Aktas, M. Basilicala, I. Van der Burgt, J. Morton, S. El Chehadeh-Djebbar, A. Hoischen, C. Gilissen, L. Vissers, R. Pfundt, C. Thauvin-Robinet, H. Brunner, J. Rivière, L. Faivre, A. Akthar, Julien Thevenon*; PL2.5 Haplotype-assisted noninvasive prenatal diagnosis of common monogenic diseases using massively parallel sequencing of plasma cell-free DNA Ya Gao, F. Chen, Y. Yuan, Y. Wang, S. Lu, H. Jiang, X. Xu; PL2.6 Parent-of-origin specific signatures of de novo mutations Jakob M. Goldmann*, W.S.W. Wong, M. Pinelli, T. Farrah, D. Bodian, A.B. Stittrich, G. Glusman, L.E.L.M. Vissers, A. Hoischen, J.C. Roach, J.G. Vockley, J.A. Veltman, B.D. Solomon, C. Gilissen, J.E. Niederhuber; | |
18.00 - 18.30 | Coffee Break |
20.00 - 21.30 | Opening Networking Mixer at the CCIB on Level P2 |
Presenting Authors marked with a * are competing for one of the ESHG Young Investigator Awards