Page 267 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
T DNA combing assay for detection of
contraction-dependent facioscapulohumeral muscular
dystrophy (FSHD1).
F. Z. Boyar, P. Chan, V. Sulcova, D.
Tsao, R. Owen, P. Walrafen, C. D. Braastad, M. Jocson, W.
Sun, A. Anguiano, C. M. Strom.
T RNA editing of the
transcripts (C to U) in
peripheral blood monocytes.
R. T. Taggart, J. D. Tario, K.
H. De Jong, P. K. Wallace, B. E. Baysal.
T FTO levels affect RNA modification and the
T. Berulava, M. Ziehe, L. Klein-Hitpass, E.
Mladenov, J. Thomale, U. Rüther, B. Horsthemke.
T Prioritizing candidate functional SNPs at GWAS
loci using epigenomic datasets from ENCODE.
K. S. Lo,
C. D. Palmer, J. N. Hirschhorn, G. Lettre.
Bioinformatics and Genomic
W Bioinformatic parallel processing tools
development for mutation identification from whole
exome data following homozygosity mapping
for autosomal recessive disorders.
Y. Al-Sarraj, A.
Abouzehry, H. ElShanti, M. Kambouris.
F Kailos Blue™: A complete cloud-based
bioinformatics solution for management and analysis
of targeted sequencing across next-generation
sequencing platforms.
R. C. Bachmeyer, D. A. Kloske, B.
Stone, K. E. Varley, D. T. Moore.
W Streamlined, accurate low level detection of
variants in deep, next-generation sequencing data
from amplicons.
C. Boysen, M. Matvienko, N. Thomson,
B. Turner, J. Bendtsen, H. Sandmann, J. Jakobsen, P.
Nielsen, A. Joecker, A. Joecker.
F De novo assembly by positional sequencing.
Bready, P. Goldstein, W. H. Heaton, P. Ianakiev, H.-Y. Li, J.
S. Oliver, J. Thompson.
W Translational research in newborn screening:
development of informatics tools to support
longitudinal research and accelerate transformations
in clinical practice.
A. Brower, B. Bowdish, M. Porter, J.
Pennington, S. Wrazien, J. Loutrel, P. White, M. Watson.
F Web-based tool for target sequence capture
assay design.
J. Cai, B. Morrow.
W wANNOVAR: Annotating genetic variants for
personal genomes via the Web.
X. Chang, K. Wang.
F Simultaneous analysis of common and rare
variants in complex traits.
G. Chen, A. Yuan, A. Bentley,
D. Shriner, A. Adeyemo, C. Rotimi.
W On combining reference data to improve
imputation accuracy.
J. Chen, J. G. Zhang, J. Li, Y. F. Pei,
H. W. Deng.
T An integrated analysis of DNA methylation,
histone modifications and gene expression in
monozygotic twins discordant for psoriasis identifies
disease-associated genes.
R. Lyle, K. Gervin, G. D.
Gilfillan, M. Hammerø, H. S. Hjorthaug, A. O. Olsen, T.
Hughes, J. R. Harris, D. E. Undlien.
T Monozygotic male twins with loss of
methylation at DMR2 but discordant for clinical
features of Beckwith Wiedemann syndrome.
J. Lazier,
M. A. Thomas.
T Acquired epigenetic and chromosomal
instability alterations are present in adults who
experienced childhood sexual abuse: A discordant
monozygotic twin study.
T. York, J. Brumelle, J. Juusola,
K. Kendler, E. Eaves, A. Amstadter, S. Aggen, K. Jones, S.
Latendresse, A. Ferreira-Gonzalez, C. Jackson-Cook.
T Genome-wide DNA methylation and gene
expression analyses of monozygotic twins discordant
for intelligence levels.
C. C. Yu, M. Furukawa, K.
Kobayashi, C. Shikishima, P. C. Cha, J. Sese, H.
Sugawara, K. Iwamoto, T. Kato, J. Ando, T. Toda.
T Analysis of expressed SNPs identifies new
genes escaping X-chromosome inactivation and
variable extents of expression from the inactive X.
Cotton, B. Ge, T. Pastinen, C. Brown.
T Investigating the role of the WICH chromatin
remodeling complex in maintaining facultative
heterochromatin at the human inactive X chromosome
through targeted deletion of the
gene using
zinc finger nuclease technology.
A. E. Culver-Cochran,
B. P. Chadwick.
T DNA methylation profiling in X;autosome
translocations supports a role for repeat elements in
the spread of X chromosome inactivation.
A. Sharp, N.
Bala, M. Brahmachary, P. Garg, C. Borel.
T Tools for epigenetic research.
L. Apone, P. Liu, G.
Lohman, E. Cantor, B. Langhorst, D. Munafo, C. Sumner,
E. Yigit, L. Merrill, F. Stewart, T. Evans, E. Dimalanta, T.
T Sex-influenced epigenetic effects in
chromosomal rearrangements.
J. Kapalanga, D. Wong,
N. Nwebube, A. Gandy.
T The relationship between paternal uniparental
disomy and clinical features in patients with Beckwith-
Wiedemann syndrome.
O. Yasufumi, K. Jozaki, T. Maeda,
H. Yatsuki, K. Higashimoto, H. Soejima.
T Streamlined chromosome conformation capture
workflow for the studies of human -globin gene
control by locus control region.
C. Woo, C. Liu, S. Dong.
T microRNAs in the sclera: Role in ocular growth
regulation and implications for myopia.
R. Metlapally, P.
Gonzalez, F. A. Hawthorne, K. Tran-Viet, C. F. Wildsoet, T.
L. Young.