Page 139 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
434
W Age-related somatic structural changes in the
nuclear genome of human blood cells.
L. A. Forsberg,
C. Rasi, H. R. Razzaghian, G. Pakalapati, L. Waite, K. S.
Thilbeault, A. Ronowicz, N. E. Wineinger, H. K. Tiwari,
D. Boomsma, M. P. Westerman, J. R. Harris, R. Lyle,
M. Essand, F. Eriksson, T. L. Assimes, C. Iribarren, E.
Strachan, T. P. O’Hanlon, L. G. Rider, F. W. Miller, V.
Giedraitis, L. Lannfelt, M. Ingelsson, A. Piotrowski, N. L.
Pedersen, D. Absher, J. P. Dumanski.
435
F Genome-wide scan of common copy number
variant regions in post-traumatic stress disorder.
G.
Guffanti, A. Aiello, M. Uddin, D. Wildman, S. Galea, K.
Koenen.
436
W Genetic variation among somatic cells revealed
by single nucleus sequencing.
I. M. Hall, M. L. Lindberg,
J. Piper, K. J. Brennand, F. H. Gage, M. J. McConnell.
437
F Structural haplotypes and recent evolution of the
human 17q21.31 locus.
R. E. Handsaker, L. M. Boettger,
M. C. Zody, S. A. McCarroll.
438
W Population genetics of haptoglobin and
haptoglobin-related protein: 50 years of human copy
number variation.
E. Hollox, A. Menard, F. Yang, B. Fu, M.
Sironi, R. Hardwick.
439
F Microduplication in 5p15.33 including
CLPMT1L
and
TERT
genes identified in a patient with cleft lip and
palate, cardiopathy and urogenital abnormalities.
G.
Izzo, E. L. Freitas, A. C. V. Krepischi, D. R. Bertola, M. R.
Passos-Bueno, C. Rosenberg.
440
W Integration of microarray and NGS generated
data for copy number analysis.
R. Keshavan, S. Verma,
S. Shams.
441
F Comparative performance of three algorithms
in detecting CNV associated with obesity and non-
alcoholic fatty liver disease.
W. Li, J. Littrell, S. Gawrieh,
M. Olivier.
442
W Increased rate of rare genic copy number
variants in Parkinson’s disease among Ashkenazi
Jews.
X. Liu, C. Cheng, S. Kisselev, H. Mejia-Santana, E.
Louis, L. Cote, H. Andrews, C. Waters, B. Ford, S. Frucht,
S. Fahn, K. Marder, J. Lee, L. Clark.
443
F A map of copy number variation in admixed
populations in Xinjiang.
H. Lou, S. Li, R. Fu, X. Pan, L.
Jin, S. Xu.
444
W Human CNVs and ultraconserved elements: A
rapid progression to mutual exclusivity.
R. B. McCole,
C. Y. Fonseka, C.-T. Wu.
445
F Prediction of 3551 human haploinsufficient
genes.
S. Meader, F. Honti, C. Webber.
446
W Prioritization of copy number variation loci
associated with autism from AutDB: An integrative
multi-study genetic database.
I. Menashe, E. C. Larsen,
S. Banerjee-Basu.
447
F Copy number variant analysis in a deeply
phenotyped cohort of individuals with intellectual
disability.
E. Mercier, Y. Qiao, J. Gillis, S. Lewis, E.
Separovic, P. Pavlidis.
448
W A novel susceptibility gene,
UGT2B17
,
is
associated with familial ankylosing spondylitis.
D. O’Rielly, M. Uddin, R. Inman, D. Gladman, W.
Maksymowych, R. Yazdani, P. Rahman.
449
F Evolution of copy number variation in the rhesus
macaque
b
-
defensin region.
B. Ottolini, T. Schwarzacher,
C. L. Bevins, J. V. Solnick, G. Doxiadis, E. J. Hollox.
450
W Characterization of copy number variation
involving the salivary agglutinin gene
DMBT1
.
S. Polley,
D. Hains, E. Hollox.
451
F Single exon deletion in
PCCA
gene in patient with
propionic acidemia highlights challenges to clinical
whole exome CNV analysis.
G. Scharer, G. Creadon-
Swindell, E. Spector, C. Coughlin, T. Shaikh.
452
W Identifying autism loci using homozygosity
analysis and copy number variation analysis.
K. E.
Schmitz-Abe, T. W. Yu, T. K. Kim, R. S. Hill, E. M. Morrow,
M. E. Greenberg, K. Markianos, C. A. Walsh.
453
F Rare exonic deletions contribute to autoimmune
diabetes susceptibility.
C. Shtir, D. Smith, H. Guo, J.
Barrett, M. Hurles, N. Walker, V. Plagnol, J. Cooper, J.
Howson, O. Burren, S. Rich, J. Todd.
454
W An atypical microduplication overlapping the
C2orf27A
gene at 2q21.1 co-segregates with Tourette
syndrome in a three generation family.
M. Uddin,
D. D. O’Reilly, P. Rahman, T. R. Purchase, H. White, S.
Luscombe, S. J. Moore, T. L. Young, K. A. Hodgkinson.
455
F Detection of copy number variation from exomes
in the DDD and UK10K projects.
P. Vijayarangakannan,
T. Fitzgerald, C. Joyce, S. McCarthy, M. Hurles, DDD and
UK10K Projects.
456
W Alterations in
RBFOX1
:
Real finding or red
herring?
L. Walters, A. Bailes, L. Erdman, A. McKinney,
S. Ramsey, C. Weber, S. Hashimoto, L. Lamb Thrush, J.
Atkin, G. Herman, S. Hickey, K. Manickam, C. Crowe, S.
Thomas, C. Astbury, J. Gastier-Foster, S. Reshmi, R. E.
Pyatt.
457
F Analyses of copy number variation reveal
putative susceptibility loci in MTX-induced mouse
neural tube defects.
J.-H. Wang, X.-W. Wang, T. Guan,
Q. Xiang, M.-S. Wang, Z. Zhang, Z. Guan, G.-L. Wang,
Z.-Q. Zhu, Q. Xe, G.-N. Li, J. Guo, F. Wang, Z.-G. Wang,
B. Niu, T. Zhang.
458
W Large range of copy number variation for human
alpha-defensin genes
DEFA1
and
DEFA3
:
Lower copy
number is a risk factor for autoimmune diseases.
H. Wang, B. Zhou, Y. L. Wu, S. Bowden, R. Hoffman,
J. Ahearn, D. Birmingham, B. Rovin, L. Hebert, A.
Schwaderer, D. Hains, C. Y. Yu.