Page 149 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
548
W Integration of copy number and structural
variation across families can provide unique insight
into disease pathology: Osteogenesis imperfecta and
autism cases explored.
A. O’Hara, L. Culot, S. Verma, Z.
Che, S. Shams.
549
T
SMN1
and
SMN2
conversion rates and their
influence on the identification of spinal muscular a ophy
carriers.
J. Regan, T. Legler, D. Shelton, D. Maar, K. Hamby.
550
F Frequency of gene usage and copy number
variation within the rearranged immunoglobin heavy-
chain variable locus based on immune repertoire
sequencing.
M. J. Rieder, D. Williamson, A. Sherwood, R.
Emerson, C. Desmarais, M. Chung, H. Robins, C. Carlson.
551
W Copy number variants near
SLC2A9
are
associated with hyperuricemia.
R. B. Scharpf, L. Mireles,
E. Halper-Stromberg, A. Tin, A. Chakravarti, E. Boerwinkle,
J. Coresh, W. H. L. Kao.
552
T Comprehensive comparison of copy number
variations detection using Illumina Omni 2.5M and
Affymetrix CytoScan® arrays.
C. Tang, E. Wong, H. Gui,
S. Cherny, P. Sham, P. Tam, M. Garcia-Barceló.
553
F Characterisation of the
RNU2
CNV, a bulky
neighbour for
BRCA1
.
C. Tessereau, N. Monnet, M.
Imbert, M. Buisson, L. Barjhoux, C. Cuenin, C. Schluth-
Bolard, D. Sanlaville, Z. Herceg, E. Conseiller, M. Ceppi, L.
Duret, O. M. Sinilnikova, S. Mazoyer.
554
W Testing rare coding deletions identified using
dense exome chip array data for contribution to type
2
diabetes.
M. Thurner, A. Mahajan, N. Robertson, A.
Kumar, W. Rayner, F. Karpe, C. Palmer, T. Spector, M.
McCarthy, K. Gaulton, GoT2D Consortium.
555
T Multiplex emulsion haplotype fusion PCR to
determine haplotypes at structurally complex regions.
J. Tyson, H. A. Black, J. A. L. Armour.
556
F Study of 455 molecularly unsolved LWD and ISS
cases: Identification of two deletions and the firs
duplication upstream of
SHOX
.
H. Verdin, L. Borms, E.
Debals, B. D’haene, G. Matthijs, E. Maris, S. Depoorter, E.
De Baere.
557
W Diversity of the human LILRB3/A6 locus
encoding a myeloid inhibitory and activating receptor
pair.
N. Vince, A. Bashirova, R. Apps, Y. Mochalova, X. Yu,
M. Carrington.
558
T Highly variable tandem repeat genes: Hotspots
for primate evolution and human disease susceptibility.
C. T. Watson, D. Ho, M. Brahmachary, A. Guimatre, C.
Borel, P. Warburton, A. J. Sharp.
559
F Detection of CNV gains and losses with
Affymetrix® Axiom® arrays.
T. Webster, H. Zuzan, J.
Gollub, J. Schmidt, A. Roter.
560
W Fusion genes resulting from complex
duplications in chromosome Xq28.
L. W. Zuccherato, B.
Alleva, C. M. B. Carvalho, J. R. Lupski.
535
F Human endogenous retroviral elements mediate
multiple large deletions and reciprocal duplications
suggestive of NAHR.
P. Dittwald, I. M. Campbell, A.
Shuvarikov, C. R. Beck, P. Hixson, T. Gambin, C. A. Shaw,
A. Gambin, J. A. Rosenfeld, P. Stankiewicz.
536
W A comprehensive high resolution map of copy
number variants shows unique disease risks in a
consanguineous Arab population.
K. Fakhro, J. L.
Rodriguez-Flores, N. Yousri, A. Robay, J. G. Mezey, R. G.
Crystal.
537
T Post-zygotic structural changes in the nuclear
genome of human blood cells.
L. A. Forsberg, C. Rasi, D.
Absher, L. Lannfelt, A. Morris, C. Lindgren, E. Ingelsson, L.
Lind, D. Dumanski.
538
F Creating a haplotype map for multi-allelic forms
of copy number variation in humans.
R. Handsaker, S.
McCarroll.
539
W Quantitative analysis of mosaic CNVs in human
fib oblasts and iPSC by digital droplet PCR.
M.
Haney, A. Abyzov, Y. Zhang, J. Ferrandino, J. Mariani, D.
Palejev, L. Tomasini, L. Belmaker, A. Szekely, M. Wilson,
A. Kocabas, N. Calixto, E. Grigorenko, A. Huttner, S.
Weissman, M. Gerstein, F. Vaccarino, A. Urban.
540
T Copy number variation studies by single cell
sequencing.
J. He, P. Liu, Y. Man.
541
F Measurement of cyclin D1 copy number variation
at the single cell level using droplet digital PCR.
E.
Hefner, Y. Jouvenot, N. Klitgord, K. Hamby.
542
W Comparison of copy number variation (CNV)
calling performance in large numbers of technical
replicate SNP array data using three different, widely-
used CNV calling algorithms.
A. Hofmann, S. Herms, F.
Degenhardt, T. W. Mühleisen, M. M. Nöthen, S. Cichon, P.
Hoffmann.
543
T Ultraconserved elements: Often disrupted in
disease-specific copy number variation, almost never
involved in benign CNVs.
R. B. McCole, C. Y. Fonseka,
C.-T. Wu.
544
F Copy number variation analysis for whole exome
and targeted sequencing using NextGENe® Software
Version 2.3.4.
J. McGuigan, J. Wu, C. S. Liu.
545
W Identification of deleterious CNVs in a low SES
African American population.
K. B. Mercer, L. M. Almli,
K. J. Ressler, J. G. Mulle.
546
T Determining the utility of MitoExome targeted
array CGH in the diagnosis of OXPHOS disorders.
H. S.
Mountford, E. J. Tucker, A. G. Compton, N. J. Lake, S. G.
Hershman, S. E. Calvo, V. K. Mootha, D. R. Thorburn.
547
F European-specific selection at the CCL3L1 locus
H. T. Nguyen, T. R. Merriman, M. A. Black.