Page 143 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
548
W Quantification of chitinase transcripts in human
tissues.
M. Ohno, K. Tsuda, M. Sakaguti, Y. Sugahara, F.
Oyama.
549
F Two functional variants in the promoter region of
UBE2L3
confer risk for systemic lupus erythematosus.
S. Wang, G. B. Wiley, F. Wen, J. Warner, J. Robertson, J.
M. Guthridge, M. Dozmorov, J. D. Wren, J. A. James, P.
M. Gaffney.
550
W A 660 kb deletion centromeric to the lamin B1
gene (
LMNB1
)
mimics LMNB1 duplication and causes
adult-onset autosomal dominant leukodystrophy.
E. Giorgio, D. Robyr, E. Di Gregorio, D. Lacerenza, G.
Vaula, A. Brusco, S. E. Antonarakis, A. Brussino.
551
F Variation in transcription factor binding among
humans.
F. Grubert, M. Kasowski, C. Heffelfinger, M.
Hariharan, A. Asabere, S. Waszak, L. Habegger, J.
Rozowsky, M. Shi, A. Urban, M. Hong, K. Karczewski, W.
Huber, S. Weissman, M. Gerstein, J. Korbel, M. Snyder.
552
W Widespread R-loop formation in the human
genome: Implications for epigenetic control and
beyond.
Y. Lim, P. Ginno, P. Lott, I. Korf, F. Chedin.
553
F Genome-wide transcriptome profiling reveals the
functional impact of rare de novo and recurrent CNVs
in autism spectrum disorders.
R. Luo, S. Sanders, Y.
Tian, I. Voineagu, N. Huang, S. Chu, L. Klei, C. Cai, J. Ou,
J. Lowe, M. Hurles, B. Devlin, M. State, D. Geschwind,
ACE Network Consortium.
554
W Transcriptional alterations underlying variable
phenotypic expressivity associated with 16p11.2
microdeletion/microduplication syndrome within
multiplex autism families.
I. Blumenthal, J. Z. Levin, Y.
Shen, C. Ernst, C. C. Morton, J. F. Gusella, M. E. Talkowski.
555
F Differential reduced expression of IRS-1 in
visceral and subcutaneous adipose depots in morbidly
obese and type2 diabetic subjects and their correlation
with metabolic profiles with 2 novel mutations
sequenced in Asian Indians.
M. Sharma, K. Luthra, S.
Aggarwal, N. Vikram, A. Misra.
556
W Quantitative analysis of the human beta cell
transcriptome.
A. C. Nica, H. Ongen, J. Irminger, S.
Dupuis, A. Planchon, L. Romano, S. E. Antonarakis, P. A.
Halban, E. T. Dermitzakis.
557
F Novel sequence motif regulates pluripotency.
Y.
Song, S. Bao, G. Niu, Y. Zhao, H. Zhu.
558
W Quantitative expression analysis of mouse
chitinases: Acidic mammalian chitinase is the major
transcript in stomach.
F. Oyama, M. Ohno, K. Tsuda, M.
Sakaguchi, Y. Sugahara.
559
F The Japanese firefly,
Luciola cruciata
,
gene:
Small intron and their insufficiency of splicing in CHO
cells.
M. Ishii, R. Kojima, S. Fukuda, M. Sakaguchi, Y.
Sugahara, M. Kamaya, F. Oyama.
560
W Expression QTL interactions in a cohort of 869
identifies a common set of asthma-associated hub
genes.
J. Chu, W. Qiu, V. Carey, K. Barnes, C. Ober, F.
Martinez, R. Lemanske, A. Liu, S. London, S. Weiss, B. Raby.
537
F Immunity genes and pathways are associated
with human microbiome composition at host body
sites.
R. Blekhman, J. Goodrich, K. Huang, R. Bukowski,
Q. Sun, R. E. Ley, D. Gevers, A. G. Clark.
538
W Ribosome footprints on Williams syndrome
region genes in the mouse brain.
R. Weiss, M. Howard,
L. Dai, J. Korenberg.
539
F Regulatory mutations in the 5’UTR of
NMNAT1
,
encoding the nuclear isoform of nicotinamide
nucleotide adenylyltransferase 1, cause Leber
congenital amaurosis.
F. Coppieters, A. Baert, C. Van
Cauwenbergh, M. Bauwens, S. De Jaegere, T. de Ravel,
F. Meire, N. Abdelmoula Bouayed, L. Florentin-Arar, B. P.
Leroy, E. De Baere.
540
W Disruption of a cis-acting microRNA site in
FMR1
results in reduced translation of an FMRP
reporter.
J. Suhl, R. Muddashetty, G. Bassell, S.
Warren.
541
F Is the biosynthesis of the major phospholipid
class phosphatidylcoline in mammalian cells regulated
by microRNA?
K. Hokynar, S. Hänninen, M. Hermansson,
P. Somerharju.
542
W Poly(A) binding protein nuclear 1 levels affect
alternative polyadenylation.
E. de Klerk, A. Venema, S.
Y. Anvar, J. J. Goeman, O. Hu, J. T. den Dunnen, S. M. van
der Maarel, V. Raz, P. A. C. ‘t Hoen.
543
F Identification of human RNA editing sites
using publically available RNA-sequencing data.
G. Ramaswami, J. B. Li.
544
W Human ADAR proteins regulate RNA editing and
gene expression as revealed in systems study.
I. Wang,
J. Toung, A. Richards, E. So, Y. Zhao, W. Ankener, J.
Devlin, Y. Liu, V. Cheung.
545
F Integrating functional and computational
genomics to develop neuronal regulatory vocabularies.
X. Reed, L. Taher, G. M. Burzynski, C. Fletez-Brant,
D. Lee, D. S. Gary, M. A. Beer, I. Ovcharenko, A. S.
McCallion.
546
W Transcriptome genomic analysis using RNA-seq
in three tissues of a twin cohort.
A. Buil, A. Brown, M.
Davies, A. Viñuela, M. Gallardo, D. Glass, M. Blasco, R.
Durbin, T. D. Spector, E. T. Dermitzakis for EUROBATS
Consortium.
547
F The genetics of gene expression, splicing and
transcriptional efficiency through poly-A selection
and ribosomal depletion RNA sequencing in humans.
M. Pala, M. Marongiu, A. Mulas, R. Cusano, F. Crobu, F.
Reinier, R. Berutti, M. G. Piras, C. Joens, D. Schlessinger,
G. Abecasis, A. Angius, S. Sanna, F. Cucca, S. B.
Montgomery.