Page 141 - ASHG 2012 Annual Meeting Program Guide

130
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
500
W Polymorphic regulation of gene expression by
the histone demethylase KDM4C.
B. L. Gregory, V. G.
Cheung.
501
F Mitochondrial sequence variation in twins.
Y. Bouhlal, S. Martinez, H. Gong, K. Dumas, J. T. C. Shieh.
502
W Polymorphisms in primer binding site affect
genotyping accuracy of
FCGR2B
rs1050501 in
Caucasians.
J. M. Reynolds.
503
F Identification of rare variants contributing to
pain sensitivity in the normal population: an exome
sequencing study.
B. Zhang, F. M. K. Williams, S. Scollen,
D. Coa, Y. Memari, C. Hyde, Y. Shi, J. Harris, I. Harrow, A.
Malarstig, B. Dougherty, R. McEwen, J. C. Stephens, K.
Patel, C. Menni, D. Hodgkiss, G. Surdulescu, W. He, B.
Sidders, D. Ziemek, N. Soranzo, X. Jin, S. B. McMahon, S.
L. John, J. Wang, T. D. Spector.
504
W Discovering retrotransposon insertion
polymorphisms associated with human phenotypes by
TIP-chip.
T. D. Babatz, D. Avramopoulos, J. D. Boeke, K.
H. Burns.
505
F Fork stalling and template switching mechanism
generates a novel rearrangement associated with
incontinentia pigmenti.
M. I. Conte, S. Raimo, M.
Paciolla, A. Pescatore, E. Esposito, M. G. Miano, F. Fusco,
M. V. Ursini.
506
W 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. Manuel Gonzalez, A. Frankish, B.
L. Aken, T. Hourlier, J. Vogel, S. White, S. M. J. Searle, J.
Harrow, T. Hubbard, R. Guigò, A. Reymond.
507
F Evolution of microRNA-3’UTR interactions and
their impact on whole transcriptome regulation.
A. Z.
Pietrzykowski, E. Kruse, N. Kinstlinger, L. Tejeda, S.
Hamza, Y. Wang.
508
W Let-7 coordinately downregulates genes on
the amino acid sensing pathway to repress mTOR
and activate neuronal autophagy.
A. N. Dubinsky,
S. Djakovic, R. Zahra, C. Hsu, B. E. Morrison, A. R. La
Spada.
509
F Deep sequencing of hypoxic breast cancer
reveals deregulation of non-coding RNAs, non ploy-A
RNAs and natural anti-sense transcripts.
H. Choudhri,
C. Camps, J. Shoedel, S. Oikonomopoulos, L. Winchester,
F. Buffa, D. Moralli, E. Volpi, P. Ratcliffe, A. Harris, D. Mole,
J. Ragoussis.
510
W Integrative annotation and functional
characterization of human long non-coding RNAs in
bladder cancer.
W. Tang, L. Prokunina-Olsson.
511
F microRNA-xx regulates vascular smooth muscle
cell phenotypes and prevents neointimal formation.
Y. Wang, H. Wang, Y. Liao, P. Tsai, K. Chen, H. Cheng, R.
Lin, S. Juo.
Liu, C. Woo, Y. Shi, J. Stevens, S. Dong.
487
F Analysis of dinucleotide mutation rates and
composition of human genome.
G. Zhang, D. W. Nebert.
488
W The L141R and G153D variations associated with
exfoliation glaucoma do not affect enzymatic functions
of the lysyl oxidase-like protein 1.
Y. Kim, S. Kim.
489
F Exploration of HIV susceptibility by exome
sequencing.
S. Liu, W. Scott, D. Dykxhoorn.
490
W Linkage disequilibrium analysis of
polymorphisms of FRAS1 related extracellular matrix 1
(
FREM1
).
J. F. Tuff, N. Kaplonski, V. Ly, B. Liang, S. Tyler, F.
A. Plummer, M. Luo.
491
F Exome sequencing of subjects with familial
1
q21.1 CNV and variable phenotype.
C. Harvard, F. Mo,
F. Tang, Y. Qiao, S. Hamilton, S. Marles, B. McGillivary, C.
Colins, M. E. S. Lewis, P. Pavlidis, E. Rajcan-Separovic.
492
W Deep resequencing of the
NOS2
gene suggests
multiple potential mechanisms underlying the
association of several complex diseases with a
common synonymous SNP.
L. Wang, J. Santos, A.
Dressen, A. Mehta, M. Pericak-Vance, J. Vance, W. Scott.
493
F Characteristics and analysis of exonic SNPs and
indels discovered by low-pass and exome sequencing.
J. Schmidt, J. Gollub, J. Barts, C. Davies, B. Wong, R.
Shigeta, G. Hsiao, M. Nitzberg, E. Shell, J. Peete, S. Hsu,
A. Kohli, T. Ha, D. Brown, L. Bellon, T. Webster.
494
W Somatic mosaicism in the blood compartment of
a 115-year-old woman.
H. Holstege, D. Sie, W. Pfeiffer,
T. Nicholas, M. A. Miller, T. Harkins, C. Lee, T. Ross, B.
Ylstra, H. Meijers-Heijboer, M. Reinders, G. Holstege, E.
Sistermans, S. Levy.
495
F High-resolution melting analysis of
STAT3
involved
in autosomal dominant hyper IgE syndrome using
bulge-inducing primers to eliminate polymorphisms
and snapback primers for genotyping.
M. T. Seipp, N. H.
Augustine, A. Kumanovics, H. R. Hill, C. T. Wittwer.
496
W PON-P: Integrated predictor for pathogenicity of
missense variants.
M. Vihinen, A. Olatubosun, J. Väliaho,
J. Härkönen, J. Thusberg.
497
F Data submissions to EBI variation archives.
I. Lappalainen, V. Kumanduri, J. Almeida-King, L. Skipper,
J. D. Spalding, M. Maguire, P. Flicek.
498
W The power of large numbers: frequencies of rare
pathogenic mutations in the 23andMe database.
E. R.
Chang, D. A. Hinds, N. Eriksson, J. M. Macpherson, C. B.
Do, B. T. Naughton.
499
F Finding from CAGI: The Critical Assessment of
Genome Interpretation, a community experiment to
evaluate phenotype prediction.
S. Brenner, S. Repo, J.
Moult, CAGI Participants.