Page 148 - ASHG 2013 Program Guide

POSTER SESSIONS
  135
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
522
T Identification of copy number variants using
computational algorithms and array CGH technologies.
P. S. Samarakoon, H. S. Sorte, B. E. Kristiansen, T. Skodje,
A. Stray-Pedersen, O. K. Rodningen, R. Lyle.
523
F Genomic characterization and copy number
analysis of human induced pluripotent stem cells from
22
q11.2 deletion syndrome patients.
C. Purmann, S.
Pasca, H. Gai, A. Krawisz, X. Zhu, J. Rapoport, J. Berstein,
J. Hallmayer, R. Dolmetsch, A. E. Urban.
524
W Common CNVs of innate immune response
genes defensin DEFA1/A3 and complement C4A are
medium effect-size risk factors for human autism
spectrum disorders.
H. Wang, K. Linter, E. Hansen, B.
Zhou, Y. L. Wu, K. Jones, A. Schwaderer, D. Hains, C. Y.
Yu, G. Herman.
525
T
TM4SF20
ancestral deletion and susceptibility
to a pediatric disorder of early language delay and
cerebral white matter hyperintensities.
S. R. Lalani, W.
Wiszniewski, J. V. Hunter, N. A. Hanchard, J. R. Willer, C.
Shaw, S. W. Cheung, A. Patel, P. Hixson, C. A. Bacino, L.
Potocki, R. L. P. Santos-Cortez, P. I. Bader, T. M. Morgan, S.
A. Boyadjiev, T. E. Gallagher, A. Mutirangura, P. Stankiewicz,
A. L. Beaudet, M. Maletic-Savatic, J. A. Rosenfeld, L. G.
Shaffer, E. E. Davis, J. W. Belmont, C. C. Khor, S. Dunstan,
P. E. Bonnen, S. M. Leal, N. Katsanis, J. R. Lupski.
526
F The use of MLPA-based strategy for discrete
copy number genotyping of complex multi-allelic
CNVs.
P. Kozlowski, M. Marcinkowska-Swojak.
527
W Co-evolutionary relationship between
chemokines and chemokine receptor: An evolutionary
perspective.
C. Tsui, Y. Hung, D. Liu, D. Chen.
528
T High-resolution analysis of DNA copy number
variations in systemic lupus erythematosus patients.
F. B. Barbosa, M. Simioni, E. A. Donadi, V. L. Gil-da-Silva-
Lopes, A. L. Simões.
529
F Duplication-normal-duplication rearrangements in
human genomic disorders.
C. R. Beck, P. Liu, J. R. Lupski.
530
W High resolution copy number variation analysis
using droplet digital PCR.
J. Berman, J. Regan, N.
Heredia, D. Skvortsov, N. Klitgord, S. Tzonev, E. Hefner.
531
T Accurate measurement of C4 gene copy number
variation by chip-based digital PCR.
C. Chen, D. Do, K.
Li, D. Keys.
532
F Copy number variants associated with the risk
of systemic lupus erythematosus: Design a lupus risk
prediction system.
Y. Chung, S. Jung, J. Kim, S. Yim.
533
W Genome-wide CNV association study of primary
caries.
K. T. Cuenco, M. Lee, X. Zheng, E. Feingold, D.
E. Weeks, R. J. Weyant, R. J. Crout, D. W. McNeil, M. L.
Marazita.
534
T Copy number variation profiling of patients with
oesophageal atresia and VACTERL.
A. deKlein, E.
Brosens, H. P. Zaveri, E. de Jong, D. A. Scott, D. Tibboel.
511
F Up-regulates of angiogenesis-associated
microRNAs in placenta from women with a low flow
mediated vasodilation.
L. M. Rodriguez, A. F. Duque, A.
Sanchez, A. C. Aguilar, A. Castillo.
Genome Structure, Variation
and Function
512
W ChIP-seq ascertained occupancy of
MEF2C
,
a GWAS-implicated osteoporosis locus, points to
an inflammation-mediated ole in bone density
determination.
S. F. A. Grant, S. Deliard, F. Zhu, Q. Xia, A.
D. Wells, K. D. Hankenson, M. E. Johnson.
513
T Enhancer activity patterns across 100
epigenomes reveal novel human disease associations.
W. Meuleman, L. D. Ward, A. Kundaje, M. Kellis, Roadmap
Epigenomics Program.
514
F Human-specific cytogenetic structu es support
the emergence of new regulatory elements.
G.
Giannuzzi, A. Reymond.
515
W Architectural proteins modulate the higher order
chromatin structure of the
CFTR
locus.
N. Gosalia, A.
Harris.
516
T Impact of three-dimensional organization of
chromatin on long-range enhancers.
A. Pankov, J.
Song.
517
F Genetic determinants of population-level
variation of chromatin modifications
H. Kilpinen, S. M.
Waszak, A. R. Gschwind, S. K. Raghav, R. M. Witwicki,
A. Orioli, M. Wiederkehr, N. Panousis, N. Hernandez, A.
Reymond, B. Deplancke, E. T. Dermitzakis.
518
W Molecular analyses of
cis
-
interactions of the
SOX9
promoter with its sex determining long-range
regulators using chromatin conformation capture-on-
chip (4C).
P. Stankiewicz, M. Smyk, P. Szafranski.
519
T Identification of genetic variants that a fect
histone modifications in human cells
G. McVicker, B.
van de Geijn, J. F. Degner, C. E. Cain, N. E. Banovich, N.
Lewellen, M. Myrthil, Y. Gilad, J. K. Pritchard.
520
F Lethal lung developmental disorder due to a
novel deep intronic deletion.
P. Szafranski, Y. Yang,
M. U. Nelson, M. J. Bizzarro, R. Morotti, C. Langston, P.
Stankiewicz.
521
W Rare recurrent homozygous deletions in a large
population reveals high penetrance loss of function
variants underlying rare strong phenotypes.
J. Glessner,
J. Li, B. Chang, K. Thomas, R. Golhar, X. Chang, Y. Guo,
D. Li, N. Abdel-Magid, C. Kao, Y. Li, J. Bradfield, C. Kim,
C. Hou, F. Mentch, H. Qiu, C. Cardinale, M. Garris, L.
Vazquez, D. Abrams, G. Otieno, T. Wang, R. Pellegrino da
Silva, R. Chiavacci, J. Connolly, B. Keating, P. Sleiman, S.
Grant, H. Hakonarson.