Concurrent Sessions C07 - C12 - Monday, June 25 - 13.15 - 14.45 hrs
Room | Tokyo | Sydney | Hall 7a | Hall 7b | St. Petersburg | Seoul |
C07. NGS Going Clinic | C08. Functional Genomics | C09. Clinical Genetics of Bone and Connective Tissue Disorders | C10. Clinical Aspects in Cancer Genetics | C11. Neurological and Sensory Diseases: From Gene to Function | Metabolic Diseases: From Gene to Function | |
13.15 | C07.1 Exome sequencing; what are the lessons learned? M. Kriek, E. Aten, G. W. E. Santen, Y. Sun, R. Al Momani, A. van Haeringen, S. A. M. J. Lesnik Oberstein, E. Bakker, M. H. Breuning, G. B. van Ommen, J. T. den Dunnen | C08.1 The ENCODE effort combining RNA-seq and RT-PCR-seq allows to catalog thousands of novel lncRNAs C. Howald, A. Tanzer, J. Chrast, F. Kokocinski, T. Derrien, N. Walters, J. M. Gonzalez, A. Frankish, B. L. Aken, T. Hourlier, J. Vogel, S. White, S. M. Searle, J. Harrow, T. Hubbard, R. Guigo, A. Reymond | C09.1 The Skeletome project: towards a community-driven knowledge curation platform for skeletal dysplasias T. Groza, H. Ziamatin, R. Paul, J. Hunter, A. Zankl | C10.1 Genomic instability in 25,000 cancer samples: A limited number of copy number aberration configurations L. Franke, R. Fehrmann, G. te Meerman, J. Karjalainen, H. Westra, C. Wijmenga | C11.1 High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease C. Pottier, D. Hannequin, S. Coutant, A. Rovelet-Lecrux, D. Wallon, S. Rousseau, S. Legallic, C. Paquet, S. Bombois, J. Pariente, C. Thomas-Anterion, A. Michon, B. Croisile, F. Etcharry-Bouyx, C. Berr, J. Dartigues, P. Amouyel, H. Dauchel, C. Boutoleau-Bretonnière, C. Thauvin, T. Frebourg, J. Lambert, D. Campion | C12.1 Mutated GPD1, encoding Glycerol-3-Phosphate Dehydrogenase 1, causes transient infantile hypertriglyceridemia with fatty liver and hepatic fibrosis L. Basel-Vanagaite, N. Zevit, A. Har Zahav, L. Guo, S. Parathath, M. Pasmanik-Chor, A. McIntyre, J. Wang, A. Albin-Kaplanski, C. Hartman, D. Marom, A. Zeharia, O. Shoerman, A. Simon, G. Rechavi, M. Shohat, R. Hegele, E. Fisher, R. Shamir |
13.30 | C07.2 Exome sequencing in the clinic: diagnostic-driven analysis of exome sequencing data M. Nelen, C. Gilissen, K. Neveling, R. de Reuver, L. Vissers, N. Wieskamp, W. Buijsman, R. Derks, M. del Rosario, I. Feenstra, H. Ijntema, H. Brunner, H. Scheffer, J. Veltman | C08.2 Allele Specific Expression Single cell RNA-Seq Analysis K. Q. Lao, F. Tang, R. Tanzi, C. Barbacioru, E. Nordman, S. Bao, C. Lee, X. Wang, B. B. Tuch, E. Heard, A. Surani | C09.2 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis C. Michot, C. LE GOFF, A. Goldenberg, A. Abhyankar, C. Klein, E. Kinning, A. Guerrot, P. Flahaut, A. Duncombe, G. Baujat, S. Lyonnet, C. Thalassinos, P. Nitschke, J. Casanova, M. Le Merrer, A. Munnich, V. Cormier-Daire | C10.2 Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis I. Spier, S. Horpaopan, S. Vogt, S. Uhlhaas, M. Morak, D. Stienen, M. Draaken, M. Ludwig, E. Holinski-Feder, M. M. Nöthen, P. Hoffmann, S. Aretz | C11.2 Combination of positional cloning and new generation sequencing identifies two novel genes in spastic paraplegia involved in lipid metabolism G. Stevanin, C. Tesson, M. Nawara, M. A. M. Salih, R. Rossignol, M. Zaki, E. Mundwiller, M. Balwi, A. Bouhouche, A. Al Drees, E. Giraud, F. Lamari, F. Santorelli, R. Schule, S. El Malik, M. M. Kabiraj, M. Z. Seidahmed, A. Alswaid, N. Bouslam, M. Gaussen, D. Zelenika, L. Orlando, G. Gyapay, L. Schols, A. Lossos, A. Durr, F. Mochel, J. Lavie, I. Al Abdulkareem, M. T. Al Rifai, A. Benomar, S. A. Al Rasheed, C. Goizet, J. Gleeson, F. Darios, A. Brice | C12.2 Familial diarrhea syndrome caused by an activating GUCY2C mutation T. Fiskerstrand, N. Arshad, B. I. Haukanes, R. R. Tronstad, K. D. K. Pham, S. Johansson, B. Haavik, S. L. Tonder, S. E. Levy, D. Brackman, H. Boman, K. H. Biswas, J. Apold, N. Hovdenak, S. S. Visweswariah, P. M. Knappskog |
13.45 | C07.3 Next Generation Sequencing in Mainstream Diagnostic Genetic Testing: Two years experience and over 1400 Patient Reports D. J. Cockburn, H. Lindsay, N. Camm, R. Robinson, R. Brown, L. Mavrogiannis, N. Jaggs, J. Morgan, G. Taylor, S. Shepherd, T. Lamb, C. Watson, R. Charlton | C08.3 Systematic assessment of the immune system by genetic mapping of its quantitative dimensions. TALK CANCELLED | C09.3 Primary hypertrophic osteoarthropathy and isolated digital clubbing are caused by mutations in the prostaglandin transporter encoding gene SLCO2A1 W. Seifert, J. Kühnisch, B. Tüysüz, C. Specker, A. Brouwers, D. Horn | C10.3 A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer A. M. Hillmer, K. P. Ng, C. T. H. Chuah, W. C. Juan, T. K. Ko, N. Takahashi, K. Sawada, A. S. M. Teo, P. N. Ariyaratne, Y. Fei, X. Y. Woo, J. C. Allen Jr, A. L. Ang, H. T. Mya, G. F. How, L. Y. Yang, L. P. Koh, B. Chowbay, V. S. Nadarajan, W. J. Chng, H. Than, L. C. Lim, Y. T. Goh, P. Tan, J. Seet, M. K. Ang, N. M. Chau, Q. S. Ng, D. S. W. Tan, M. Soda, K. Isobe, M. M. Nöthen, T. Y. Wong, E. H. Tan, Y. Yatabe, H. Mano, R. A. Soo, T. M. Chin, W. T. Lim, Y. Ruan, T. S. Ong | C11.3 Exome sequencing reveals causal gene for spinocerebellar ataxia 19 A. Duarri, J. Jezierska, M. Fokkens, M. Meijers, J. Schelhaas, G. Hageman, B. Kuesters, W. den Dunnen, C. Verschuuren-Bemelmans, B. van de Warrenburg, H. Boddeke, H. Kremer, R. Sinke, D. S. Verbeek | C12.3 Exome sequencing identifies nonsense mutations in AGK as a cause of Sengers syndrome T. B. Haack, J. A. Mayr, E. Graf, F. Zimmermann, B. Haberberger, A. Superti-Furga, J. Kirschner, B. Steinmann, M. R. Baumgartner, I. Moroni, E. Lamantea, M. Zeviani, R. J. Rodenburg, P. Chinnery, R. Taylor, J. Smeitink, T. M. Strom, T. Meitinger, W. Sperl, H. Prokisch |
14.00 | C07.4 Doubly heterozygous LMNA and TTN Mutations Revealed by Exome Sequencing in a Severe Form of Dilated Cardiomyopathy P. N. Robinson, C. Viviani Anselmi, P. Krawitz, G. Lattanzi, Y. von Kodolitsch, A. Perrot, E. di Pasquale, L. Papa, P. Portararo, M. Columbaro, A. Forni, G. Faggian, G. Condorelli, R. Roncarati | C08.4 Zooming in on causal variants by eQTL meta-analysis in 5,311 samples T. Esko, H. Westra, M. J. Peters, C. Schurmann, H. Yaghootkar, J. Kettunen, M. A. Christiansen, J. Karjalainen, R. Fehrmann, G. te Meerman, A. Hofman, F. Rivadeneira, E. Reinmaa, R. Jansen, J. Brody, S. A. Gharib, A. Suchy-Dicey, D. Enquobahrie, A. G. Uitterlinden, C. Wijmenga, B. M. Psaty, S. Ripatti, T. Frayling, A. Teumer, A. Metspalu, J. B. J. van Meurs, L. Franke | C09.4 Comprehensive genome wide CNV screening in 47 individuals with VATER/VACTERL association A. C. Hilger, M. Draaken, T. Pennimpede, L. Wittler, C. Schramm, G. Dworschak, E. Bartels, H. Engels, A. Zink, F. Degenhardt, E. Schmiedeke, D. Schmidt, S. Grasshoff-Derr, S. Märzheuser, S. Hosie, S. Holland-Cunz, S. Moebus, M. M. Nöthen, M. Ludwig, H. Reutter | C10.4 The impact of a cancer family history on ovarian cancer risk in BRCA1 and BRCA2 mutation carriers J. Oosterwijk, N. Teixeira, M. Mourits, D. van der Kolk, A. van der Hout, L. Jansen, T. de Bock | C11.4 Defective presynaptic choline transport underlies hereditary motor-neuropathy K. E. S. Barwick, J. Wright, S. Al-Turki, M. M. McEntagart, A. Nair, A. Al-Memar, H. Modarres, M. Reilly, K. Dick, A. Ruggiero, R. Blakely, M. Hurles, A. H. Crosby | C12.4 Molecular diagnosis in mitochondrial complex I deficiency using next-generation sequencing H. Prokisch, T. Haack, B. Haberberger, E. Frisch, E. Graf, J. A. Mayr, U. Herberg, J. B. Hennermann, U. Ahting, W. Sperl, E. Wilichowski, G. F. Hoffmann, M. Tesarova, B. Plecko, I. Wittig, T. M. Strom, M. Schuelke, P. Freisinger, T. Meitinger |
14.15 | C07.5 Trio-aware variant calling for accurate genotyping and de novo mutation detection L. C. Francioli, K. V. Garimella, K. E. Samocha, F. Van Dijk, B. M. Neal, M. J. Daly, E. Banks, M. Swertz, M. A. DePristo, P. I. W. de Bakker | C08.5 Mapping genetic and epigenetic factors influencing human hippocampal gene expression L. Priebe, C. Wolf, M. Alexander, N. Karbalai, K. Pernhorst, H. Fröhlich, O. Stegle, A. Kriegel, T. Sander, D. Czamara, M. Mattheisen, B. Pütz, A. Hillmer, A. Altmann, N. Kluck, B. Schölkopf, K. Borgwardt, J. Schramm, P. Hoffmann, A. Becker, M. M. Nöthen, B. Müller-Myhsok, S. Cichon | C09.5 Comprehensive clinical and molecular analysis of 12 families with type I recessive cutis laxa B. L. Callewaert, C. Su, T. Van Damme, P. Vlummens, F. Malfait, O. Vanakker, B. Schulz, M. Mac Neal, E. C. Davis, J. G. H. Lee, A. Salhi, S. Unger, K. Heimdal, S. De Almeida, U. Kornak, H. Gaspar, J. Bresson, K. Prescott, M. E. Gosendi, S. Mansour, G. E. pierard, S. Madan-Khetarpal, F. C. Sciurba, P. J. Coucke, L. Van Maldergem, Z. Urban, A. De Paepe | C10.5 Combined whole genomic, exomic and transcriptomic sequencing identifies genes recurrently mutated in Burkitt lymphomas J. Richter, M. Schlesner, E. Leich, B. Burkhardt, S. Hoffmann, M. Szczepanowski, M. Kreuz, D. Lenze, S. Bernhart, M. Rosolowski, J. Hoell, C. Lawerenz, N. Jäger, B. Hutter, D. Langerberger, O. Ammerpohl, H. Binder, A. Borkhardt, B. Brors, A. Claviez, J. Pischimarov, M. Deyling, R. Eils, M. Hansmann, V. Binder, N. Hornig, W. Klapper, J. Korbel, D. Kube, R. Küppers, P. Lichter, M. Loeffler, P. Möller, C. Pott, A. Rosenwald, S. Schreiber, M. Schilhabel, R. Scholtysik, P. Stadler, H. Trautmann, R. Wagener, T. Zenz, L. Trümper, P. Rosenstiel, M. Hummel, R. Siebert | C11.5 Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement K. Neveling, A. Estrada-Cuzcano, S. Kohl, E. Banin, Y. Rotenstreich, D. Sharon, T. C. Falik-Zaccai, S. Hipp, R. Roepman, B. Wissinger, S. J. F. Letteboer, D. A. Mans, E. A. W. Blokland, M. P. Kwint, S. J. Gijsen, R. A. C. van Huet, R. W. J. Collin, H. Scheffer, J. A. Veltman, E. Zrenner, A. I. den Hollander, B. J. Klevering, F. P. M. Cremers | C12.5 Mitochondrial ribosome assembly defect underlies infantile-onset mitochondrial cardiomyopathy H. Tyynismaa, C. J. Carroll, P. Isohanni, R. Pöyhönen, L. Euro, U. Richter, T. Lahtinen, A. Götz, A. Paetau, H. Pihko, B. Battersby, A. Suomalainen |
14.30 | C07.6 The Diagnostic Mutation Database (DMuDB). Collecting, managing and publicising clinical variant data. M. Cornell, A. Devereau | C08.6 A gene co-regulation network based on 80,000 samples allows for accurate prediction of gene function J. Karjalainen, R. Fehrmann, G. te Meerman, H. Westra, C. Wijmenga, L. Franke | C09.6 Discriminative features in three cutis laxa syndromes; Geroderma Osteodysplastica, Cutis laxa type IIA, Cutis laxa type IIB A. Kariminejad, B. Bozorgmehr, M. Kariminejad, B. Fischer, T. Thatjana Gardeitchik, E. Morava | C10.6 Complex tumor genomes inferred from plasma-DNA and circulating tumor cells of patients with colorectal cancer E. Heitzer, M. Auer, E. Hoffmann, C. Beneken, M. Pichler, S. Lax, P. Ulz, J. Waldispuehl-Geigl, O. Mauermann, C. Lackner, G. Höfler, F. Eisner, H. Sill, K. Pantel, S. Riethdorf, T. Bauernhofer, J. B. Geigl, M. R. Speicher | C11.6 SUN protein interactions at the nuclear envelope and their role in Emery-Dreifuss muscular dystrophy P. Meinke, F. Haque, W. Schröder, U. Felbor, S. Shackleton, M. Wehnert | C12.6 Different sequencing strategies in the analysis of new ENU-derived mouse models for metabolic bone disease B. Lorenz-Depiereux, S. Sabrautzki, S. Diener, E. Graf, T. Wieland, A. Benet-Pagès, S. Eck, B. Rathkolb, J. Aguilar-Pimentel, J. Calzada-Wack, E. Wolf, M. Ollert, F. Neff, M. Hrabé de Angelis, T. M. Strom |