Page 144 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
133
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
571
F Regulatory impact of alternative polyadenylation
in human B-lymphoblastoid cells.
O. K. Yoon, T. Y. Hsu,
J. H. Im, R. B. Brem.
572
W Identification of a novel CFTR mRNA isoform
in nasal epithelial cells.
A. Hinzpeter, A. de Becdelièvre,
E. Bieth, F. Brémont, C. Costa, C. Gameiro, A. Aissat, M.
Goossens, P. Fanen, E. Girodon.
573
F Cytokine induced genetic-epigenetic interactions
at autoimmune thyroiditis susceptibility gene variants.
M. Stefan, W. Zang, M. Keddache, Y. Tomer.
574
W DMD transcript imbalance regulates dystrophin
levels.
P. Spitali, J. C. van den Bergen, B. Wokke, A. A. M.
Janson, R. van den Eijnde, J. J. G. M. Verschuuren, J. T.
den Dunnen, P. A. C. ‘t Hoen, A. Aartsma-Rus.
575
F Protein inhibitor of activated STAT3 modulates
the activity of anterior segment dysgenesis
transcription factors in trabecular meshwork cells.
T. Footz, L. Huang, M. Walter.
576
W Statin-induced alternative splicing in HepG2
cells.
C. Stormo, M. K. Kringen, O. K. Olstad, J. P. Berg,
A. P. Piehler.
577
F Functional RNA editing sites identified by
comparative transcriptome analysis.
R. Zhang, G.
Ramaswami, L. P. Keegan, T. Deng, M. A. O’Connell, J.
B. Li.
578
W Meta-analysis of transcriptome data using
pathway-based approach reveals biologically relevant
asthma genes.
T. Mersha, S. Amirisetty, G. Hershey.
579
F Whole transcriptome analysis of velocardiofacial
syndrome using next-generation sequencing.
Y. Zhang,
J. Jin, X. Zhu, M. Haney, Y. Kluger, S. Weissman, A. Urban.
580
W Genome-wide search for novel human uORFs
and N-terminal protein extensions using ribosomal
footprinting.
J. Hampe, C. Fritsch, A. Herrmann, M.
Nothnagel, K. Szafranski, K. Huse, S. Schreiber, M. Platzer,
M. Krawczak, M. Brosch.
581
F Variation in protein levels and its genetic
determination in human lymphoblastoid cell lines.
L.
Wu, S. I. Candille, Y. Choi, H. Tang, M. Snyder.
582
W The impact of loss of function variants on the
transcriptome.
M. A. Rivas, T. Lappalainen, M. Sammeth,
D. G. MacArthur, N. Kurbatova, T. Wieland, M. Lek, T.
Griebel, M. Barann, M. Sultan, J. Carlsson, P. Hoen, T.
Strom, S. Schreiber, H. Lehrach, S. E. Antonarakis, G. van
Ommen, R. Sudbrak, R. Hasler, A. Brazma, A.-C. Syvänen,
P. Rosenstiel, T. Meitinger, R. Guigo, I. Gut, X. Estivill, M. I.
McCarthy, E. T. Dermitzakis, Geuvadis Consortium.
583
F Mapping cis and trans regulatory effects across
multiple tissues in twins: The MuTHER Study.
K. Small,
E. Grundberg, A. Hedman, A. Nica, A. Buil, S. Keildson,
J. Bell, T. Yang, A. Barrett, J. Nisbet, D. Meduri, S.-Y.
Shin, D. Glass, J. Min, L. Parts, L. Tsaprouni, F. Nestle,
S. O’Rahilly, N. Soranzo, C. M. Lindgren, K. Zondervan,
individuals reveals sex specific, cis-cis, trans-cis and
trans-trans interactions.
J. Bryois, A. Buil, D. M. Evans,
D. F. Conrad, S. M. Ring, M. Hurles, P. Deloukas, G. D.
Smith, E. T. Dermitzakis.
561
F Tissue-specific effects of genetic variation and
DNA methylation on gene regulation.
E. T. Dermitzakis,
M. Gutierrez-Arcelus, S. B. Montgomery, T. Lappalainen,
H. Ongen, A. Yurovsky, J. Byrois, A. Buil, T. Giger, L.
Romano, A. Planchon, E. Falconnet, I. Padioleau, C.
Borrel, A. Letourneau, P. Makrythanasis, M. Guipponi, C.
Gehrig, S. E. Antonarakis.
562
W Multi-scale integration systematically connects
disease-associated variants to molecular pathology.
K. J. Karczewski, J. T. Dudley, R. Chen, A. J. Butte, M.
Snyder.
563
F Analysis of primary natural killer cells reveals
multiple novel cell-specific eQTL.
S. Makino, B. P.
Fairfax, E. Ng, J. C. Knight.
564
W The impact of polymorphisms within probe
sequences on expression QTL studies.
A. Ramasamy,
D. Trabzuni, R. J. Gibbs, A. Dillman, D. G. Hernandez,
S. Arepalli, R. Walker, C. Smith, A. A. Shabalin, Y. Li, A.
B. Singleton, M. R. Cookson, J. Hardy, M. Ryten, M. E.
Weale, North American Brain Expression Consortium and
UK Brain Expression Consortium.
565
F PGC-1
a
regulates TFEB to promote autophagy
lysosome-mediated turnover of aggregate-prone
neurodegenerative disease proteins.
T. Tsunemi, B. E.
Morrison, T. D. Ashe, A. R. La Spada.
566
W The SLE associated TT
.
A polymorphism
downstream of
TNFAIP3
demonstrates lower affinity
for NF- B and SATB1 and reduced enhancer activity.
F. Wen, A. K. Templeton, S. Wang, J. M. Guthridge, M. B.
Humphrey, P. M. Gaffney.
567
F Transcriptome and genome sequencing
uncovers functional variation in human populations.
T. Lappalainen, M. Sammeth, N. Kurbatova, J. Monlong,
M. Friedländer, M. A. Rivas, T. Wieland, O. Karlberg,
M. Barann, P. A. C. ‘t Hoen, T. Griebel, M. Sultan, D.
MacArthur, E. Lizano, T. Strom, S. Schreiber, H. Lerach, S.
E. Antonarakis, G. J. van Ommen, R. Sudbrak, R. Häsler,
A. Brazma, A.-C. Syvänen, P. Rosenstiel, T. Meitinger,
R. Guigo, I. Gut, X. Estivill, E. T. Dermitzakis, Geuvadis
Consortium.
568
W Impact of private variants on human
transcriptome architecture.
X. Li, K. Karczewski, K.
Smith, K. Kukurba, S. Montgomery.
569
F Predicting disease-relevant
cis
-
regulatory
SNPs via tissue-specificity of allelic expression and
chromatin state.
N. Light, V. Adoue, P. Lundmark, B. Ge,
T. Kwan, A.-C. Syvänen, T. Pastinen.
570
W Characterization of the basic regulatory
elements involved in the regulation of
OTC
gene
expression in human.
O. Luksan, L. Dvorakova,
M. Jirsa.