Concurrent Sessions C07 - C12 - Monday, June 25 - 13.15 - 14.45 hrs

RoomTokyoSydneyHall 7aHall 7bSt. PetersburgSeoul

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