Page 141 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
W Polymorphic regulation of gene expression by
the histone demethylase KDM4C.
B. L. Gregory, V. G.
F Mitochondrial sequence variation in twins.
Y. Bouhlal, S. Martinez, H. Gong, K. Dumas, J. T. C. Shieh.
W Polymorphisms in primer binding site affect
genotyping accuracy of
rs1050501 in
J. M. Reynolds.
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.
W Discovering retrotransposon insertion
polymorphisms associated with human phenotypes by
T. D. Babatz, D. Avramopoulos, J. D. Boeke, K.
H. Burns.
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.
W The ENCODE effort combining RNA-seq and
RT-PCR-seq allows to catalog thousands of novel
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.
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.
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
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.
W Integrative annotation and functional
characterization of human long non-coding RNAs in
bladder cancer.
W. Tang, L. Prokunina-Olsson.
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.
F Analysis of dinucleotide mutation rates and
composition of human genome.
G. Zhang, D. W. Nebert.
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.
F Exploration of HIV susceptibility by exome
S. Liu, W. Scott, D. Dykxhoorn.
W Linkage disequilibrium analysis of
polymorphisms of FRAS1 related extracellular matrix 1
J. F. Tuff, N. Kaplonski, V. Ly, B. Liang, S. Tyler, F.
A. Plummer, M. Luo.
F Exome sequencing of subjects with familial
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.
W Deep resequencing of the
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.
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.
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.
F High-resolution melting analysis of
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.
W PON-P: Integrated predictor for pathogenicity of
missense variants.
M. Vihinen, A. Olatubosun, J. Väliaho,
J. Härkönen, J. Thusberg.
F Data submissions to EBI variation archives.
I. Lappalainen, V. Kumanduri, J. Almeida-King, L. Skipper,
J. D. Spalding, M. Maguire, P. Flicek.
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.
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.