Page 105 - ASHG 2013 Program Guide

92
INVITED AND PLATFORM SESSIONS
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Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
SESSION 23 – From eQTLs to Epigenetics and Beyond
Room 205, Level 2, Convention Center
Moderators
:
John M. Greally, Albert Einstein Col. of
Med.; Alexis Battle, Stanford Univ.
124
/8:00
Interpreting eQTLs by linking enhancers
to target genes.
J. Wang, A. Kundaje, L. D. Ward, M.
Kellis, GTEx Consortium and Roadmap Epigenomics
Program.
125
/8:15
Genetic architecture of regulatory
variation influencing response to human rhinovirus
infection.
M. Caliskan, Y. Gilad, C. Ober.
126
/8:30
Genome-wide association of expression
response of primary immune cells identifies novel
cis and trans loci specific to distinct pathogen
responses.
C. Ye, M. Lee, A. C. Villani, T. Raj, W.
Li, T. M. Eisenhaure, S. H. Imboywa, P. I. Chipendo,
K. Rothamel, K. Raddassi, M. H. Lee, I. Wood, C.
McCabe, B. E. Stranger, C. O. Benoist, P. L. De
Jager, A. Regev, N. Hacohen, Immunological Variation
Consortium.
127
/8:45
Expression QTL analysis from primary
immune cells of a multi-ethnic cohort identifies
novel disease-causing regulatory effects.
B. E.
Stranger, T. Raj, C. Ye, S. Mostafavi, K. L. Rothamel,
M. Lee, J. M. Replogle, T. Feng, S. H. Imboywa, M.
Lee, C. McCabe, D. Koller, A. Regev, N. Hacohen, C.
O. Benoist, P. L. De Jager, Immunological Variation
Consortium.
128
/9:00
Allele specific expression analysis using
transcriptome sequencing in three tissues of a twin
cohort reveals large effect of gene-by-gene and gene-
by-environment interactions.
A. Buil, A. A. Brown, A.
Viñuela, M. N. Davies, H. F. Zheng, J. B. Richards, K. S.
Small, R. Durbin, T. D. Spector, E. T. Dermitzakis.
129
/9:15
Epigenomic variation between species,
tissues, populations and individuals.
A. Kundaje,
W. Meuleman, J. Wang, N. Kumar, S. Kyriazopoulou-
Panagiotopoulou, M. Kasowski, M. Snyder, M. Kellis.
130
/9:30
Predicting genome-wide DNA methylation
using methylation marks, genomic position and
DNA regulatory elements.
W. Zhang, T. D. Spector,
P. Deloukas, J. T. Bell, B. E. Engelhardt.
131
/9:45
An ENU mutagenesis screen identifies the
first mouse mutants of a novel epigenetic modifier,
rearranged L-Myc fusion (
Rlf
).
S. K. Harten, L.
Bourke, V. Bharti, H. Oey, N. Whitelaw, L. Daxinger, E.
Whitelaw.
132
/10:00
Zebrafish Mutation Project: Functional
genomics of disease.
E. M. Busch-Nentwich, J. E.
Collins, I. Sealy, N. Wali, R. J. White, C. M. Dooley,
C. Scahill, S. Carruthers, Z. Pusztai, C. Herd, A. Hall,
R. N. W. Kettleborough, J. Morris, J. Barrett, D. L.
Stemple.
Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
SESSION 24 – Neurogenetics: Illuminating
Mechanisms
Room 253, Level 2, Convention Center
Moderators
:
Gary Beecham, Univ. of Miami; Lindsay
Farrer, Boston Univ.
133
/8:00
Unraveling the genetic architecture of
multiple sclerosis and the underlying implicated
pathways.
N. A. Patsopoulos, for International
Multiple Sclerosis Genetics Consortium (IMSGC).
134
/8:15
Autosomal dominant congenital spinal
muscular atrophy is caused by mutations in
BICD2
,
a golgin and important motor adaptor.
B. Wirth, L.
A. Martinez-Carrera, I. Hölker, A. Heister, A. Verrips,
S. M. Hosseini-Barkooie, C. Gilissen, S. Vermeer, M.
Pennings, R. Meijer, M. te Riele, C. J. M. Frijns, O.
Suchowersky, L. MacLaren, S. Rudnik-Schöneborn,
R. J. Sinke, K. Zerres, R. B. Lowry, H. H. Lemmink, L.
Garbes, M. Synofzik, J. A. Veltman, H. J. Schelhaas,
H. Scheffer, K. Neveling.
135
/8:30
Rare variants in restless legs syndrome.
E. C. Schulte, M. Kousi, B. Schormair, F. Knauf, P.
Lichtner, C. Trenkwalder, B. Högl, B. Frauscher, K.
Berger, I. Fietze, N. Gross, M. Hornyak, K. Stiasny-
Kolster, W. Oertel, C. G. Bachmann, W. Paulus, A.
Zimprich, A. Peters, C. Gieger, T. Meitinger, B. Müller-
Myhsok, N. Katsanis, J. Winkelmann.
136
/8:45
Mutations in
PNPLA6
cause a range of
neurodegenerative phenotypes.
M. A. Gonzalez,
M. Synofzik, M. Coutelier, C. Marques Lourenço, T.
Haack, H. Prokisch, R. Schule, W. Marques Junior, L.
Schols, G. Stevanin, S. Zuchner.
137
/9:00
Targeted resequencing of 101 known
and candidate epilepsy genes in 600 patients with
severe epilepsies identifies recurrently mutated
genes.
G. L. Carvill, S. B. Heavin, J. M. McMahon, B.
J. O’Roak, S. F. Berkovic, J. Shendure, I. E. Scheffer,
H. C. Mefford.
138
/9:15
A mouse model of Kabuki syndrome
demonstrates defective hippocampal neurogenesis
rescued with treatment with AR-42, a histone
deacetylase inhibitor.
H. T. Bjornsson, J. S.
Benjamin, L. Zhang, E. E. Gerber, Y. Chen, M. C.
Potter, H. C. Dietz.
139
/9:30
Human iPSC-based models of neuronal
ceroid lipofuscinosis capture progressive
pre-storage pathology in multiple cellular
compartments.
J. F. Staropoli, X. Lojewski, S.
Biswas, L. Haliw, A. Simas, M. K. Selig, K. A. Goss,
A. Petcherski, S. H. Coppel, U. Chandrachud, S.
Sheridan, K. B. Sims, J. F. Gusella, D. Lucente, D.
Sondhi, R. G. Crystal, S. J. Haggarty, A. Hermann, A.
Storch, S. L. Cotman.