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886W De novo transcriptome assembly by pooling
samples in case-control studies identifies novel events
missed by alignment-based approaches.
M. W. Snyder,
R. P. Nair, L. C. Tsoi, T. Tejasvi, P. E. Stuart, B. Li, H. M.
Kang, J. T. Elder, G. R. Abecasis.
887W Complex structural polymorphisms predispose
to 15q13.3 deletion syndrome.
F. Antonacci, P. H.
Sudmant, J. A. Rosenfeld, L. Vives, A. Stuart, T. A.
Graves, R. K. Wilson, L. G. Shaffer, C. T. Amemiya, E. E.
Eichler.
888W Hydroxyurea induces de novo copy number
variants in human cells.
M. F. Arlt, A. C. Ozdemir, S. R.
Birkeland, T. E. Wilson, T. W. Glover.
889W A genome-wide investigation of copy number
variation in patients with sporadic brain arteriovenous
malformation.
N. Bendjilali, H. Kim, S. Weinsheimer, P. Y.
Kwok, J. G. Zaroff, S. Sidney, C. E. McCulloch, W. L.
Young, L. Pawlikowska.
890W CNV load in recessive carrier status: Preliminary
findings from exon-targeted array comparative
genomic hybridization.
P. M. Boone, C. Shaw, S. W.
Cheung, A. L. Beaudet, P. Stankiewicz, A. Patel, J. R.
Lupski.
891W Copy number and allelic variation of
immunoglobulin variable gene IGHV1-69 and HIV
progression.
F. Breden, C. Watson, J. Willsey, M.
Brockman, F. Pererya, B. Walker.
892W Hutterite genome sequencing identifies potential
asthma genetic susceptibility variants.
C. D. Campbell,
M. Malig, A. Ko, L. Vives, B. J. O'Roak, C. Alkan, P. H.
Sudmant, L. Han, M. Abney, M. J. Rieder, C. Ober, E. E.
Eichler.
893W dbVar: A database of genomic structural
variation.
D. Church, T. Hefferon, J. Lopez, J. Garner, N.
Husain, M. DiCuccio, J. Paschall, M. Feolo, S. Sherry, D.
Maglott.
894W Genome-wide copy number detection and
analysis in a large diabetes cohort implicates rare yet
recurrent imbalances in
INS
,
ABCC8
and
KCNJ11
.
L.
Davis, J. Below, A. Konkashbaev, K. Aquino-Michaels, V.
Paz, E. Cook, G. Bell, N. Cox.
895W Comparative analysis of high resolution array
platforms reveals diverse genome-wide copy number
variation detection in humans.
R. R. Haraksingh, A.
Abyzov, M. Gerstein, A. E. Urban, M. Snyder.
896W Copy number variations in gene networks
involving alternative splicing impact lifespan.
C. E. Kim,
J. T. Glessner, A. V. Smith, D. Hadley, K. Wang, S.
Panossian, N. Takahashi, K. Thomas, F. Wang, T. Harris, L.
Launer, B. Keating, G. Lyon, J. Connolly, P. M. A. Sleiman,
J. D. Buxbaum, S. F. A. Grant, V. Gudnason, H.
Hakonarson.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
897W Copy number variation and transcription level
of the PXE-gene ABCC6 and its pseudogenes.
M. K.
Kringen, C. Stormo, R. M. Grimholt, J. P. Berg, A. P.
Piehler.
898W Genome-wide analysis of rare CNVs in control
populations.
L.-P. Lemieux Perreault, E. Giannoulatou,
M.-P. Dubé, C. Spencer, P. Donnelly, Wellcome Trust C
Control Consortium 2.
900W Identification of a novel locus associated with
the common birth defect spina bifida.
L. Muthuswam
A. G. Bassuk, R. Boland, M. Hakeman, J. Dierdorf, A.
Hulstrand, G. Bonde, R. Cornell, D. W. Houston, J. R.
Manak.
901W Copy number variations are associated with
osteoporotic fracture: The Framingham Osteoporosi
Study.
K. Nandakumar, C. L. Cheung, H. Zhou, Y. Zhou
C. T. Liu, S. Demissie, D. Karasik, A. Cupples, D. P. Kiel
Y. H. Hsu.
902W High resolution map of canine copy number
varistion.
E. Nevalainen, J. Berglund, C. Hitte, A.
Nyström, C. André, M. Webster, H. Lohi, K. Lindblad-To
LUPA Consortium.
903W Detection of copy number variations in PARK
and SNCA in Parkinson disease patients using
NanoString® technology.
K. Nuytemans, G. Bademci,
Wang, S. Zuchner, F. Nahab, C. Singer, T. Guettouche,
M. Vance.
904W Detection of novel copy number variation in
individuals with autism spectrum disorder using a
comparative genomic hybridization array.
A. Prasad,
R. Marshall, B. Thiruv, J. Wei, J. L. Howe, D. Pinto, J.
Rickaby, Q. Tran, S. W. Scherer.
905W Discovery of pseudoautosomal region 3
redefines the structure and function of human X an
chromosomes.
N. B. Ramachandra, A. M. Veerappa, J
S. Marita Priya, P. Padakannaya.
906W CNV detection using uncertainty of read
mapping.
Z. Wang, F. Hormozdiari, W. Yang, E. Eskin.
907W Characterizing copy number variation at the
human immunoglobulin heavy chain locus.
C. T.
Watson, K. M. Steinberg, R. L. Warren, F. Hach, J. B. J
T. Graves, R. K. Wilson, C. Sahinalp, R. A. Holt, E. E.
Eichler, F. Breden.
908W dbSNP: Database of short genetic variations.
Maiti, H. Zhang, M. Kholodov, D. Shao, E. Shekhtman,
Rudnev, K. Sirotkin, M. Ward, D. Maglott, M. Feolo, S.
Sherry, L. Phan.
909W Determination of
RET
sequence variation in a
MEN2 unaffected cohort using multiple-sample
pooling and massively parallel sequencing.
R. Margr
J. Durtschi, J. Stephens, M. Perez, K. Voelkerding.