Page 140 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
129
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
473
F A complex rearrangement of the
OCA2
gene in
two unrelated albino patients.
B. Arveiler, E. Lasseaux,
D. Cailley, M. L. Vuillaume, C. Rooryck, A. Rouault, J.
Toutain, D. Lacombe, F. Morice-Picard.
474
W A four base pair insertion in
WNT16a
identified
through exome sequencing is associated with type 2
diabetes.
L. Been, M. Fortner, E. Howard, M. Lerner, D.
Brackett, D. Sanghera.
475
F Obstetric complication-associated ANXA5
promoter polymorphisms affect gene expression
via DNA secondary structures.
H. Inagaki, S. Ota, H.
Nishizawa, H. Miyamura, K. Nakahira, M. Suzuki, S.
Nishiyama, Y. Udagawa, I. Yanagihara, H. Kurahashi.
476
W The influence of genomic context on mutation
patterns inferred from extremely rare variants.
V. M.
Schaibley, M. Zawistowski, D. Wegmann, D. Kessner,
M. G. Ehm, M. R. Nelson, P. L. St. Jean, G. Abecasis, J.
Novembre, S. Zöllner, J. Z. Li.
477
F Sequencing the unsequenceable: Expanded CGG
repeats in the human
FMR1
gene.
P. Hagerman, J. Eid, P.
Peluso, D. Rank, J. Yin, L. Hickey, E. Loomis.
478
W Three novel
NR5A1
gene mutations in
patients with 46,XY karyotype and disorders of sex
development.
H. C. Fabbri, J. G. Andrade, A. T. Maciel-
Guerra, G. Guerra-Junior, M. P. de Mello.
479
F A deletion and a novel nonsense
SRY
mutation
in 46,XY Brazilian patients with disorder of sex
development.
C. S. C. Piveta, B. P. B. Araújo, P. D.
Pereira, F. B. Coeli-Lacchini, A. T. Maciel-Guerra, G.
Guerra-Junior, I. L. Monlleó, M. P. de Mello.
480
W Whole genome sequencing in autism identifies
hotspots for germline mutation.
J. Michaelson, H.
Zheng, M. Gujral, Y. Shi, D. Malhotra, X. Jin, D. Greer,
A. Bhandari, R. Corominas, A. Peoples, A. Koren, S.
McCarroll, L. Iakoucheva, Y. Li, J. Wang, J. Sebat.
481
F Molecular basis of male infertility: An Indian
perspective.
H. Sharma, R. Prasad, R. Mohan, S. K. Singh.
482
W Phase-defined complete HLA genotyping by
amplicon sequencing and read-backed phasing.
K.
Hosomichi, T. Hayano, I. Inoue.
483
F Characterization of sequence variants from the first
direct-to-consumer exome pilot project.
A. Shmygelska,
E. Harrington, C. McLean, A. Chowdry, B. Naughton.
484
W Targeted sequencing applications and project
design.
R. Fulton.
485
F Inverted low-copy repeats and genome
instability: A genome-wide analysis.
T. Gambin, P.
Dittwald, C. Gonzaga-Jauregui, C. M. B. Carvalho, J. R.
Lupski, A. Gambin, P. Stankiewicz.
486
W DNA from 1D to 3D: Effect of single nucleotide
change on DNA conformational structure.
P. W. Yim, C.
459
F Analysis of structural variation in the Genome
of the Netherlands project.
K. Ye, V. Guryev, W.
Kloosterman, L. Francioli, J. Y. Hehir-Kwa, E. Lameijer,
A. Abdellaoui, J. de Ligt, V. Koval, N. Amin, F. van Dijk,
L. C. Karssen, H. Mei, Genome of the Netherlands
Consortium.
460
W Copy number variation of the Y chromosome
in autism spectrum disorder.
R. K. Yuen, E. Kolomietz,
M. Vlasschaert, A. Merkoulovitch, J. R. MacDonald, C. R.
Marshall, S. W. Scherer.
461
F Novel method of CNV analysis in Fc
g
R locus
and its application to immune-related diseases.
A.
Zhernakova, L. Franke, A. Ioan, G. Trynka, K. Fransen,
R. Weersma, S. Rantapää-Dahlqvist, P. Gregersen, C.
Wijmenga, T. Huizinga, R. Toes.
462
W An improved diagnostic workflow using SNP
arrays reveals novel insights into CNVs in mental
retardation.
X. Zhou, J. M. Wang, B. Wang, J. Wang, T. Ji,
X. Zhang, X. Ma, Y. Jiang.
463
F Copy number variation in autism spectrum
disorders.
B. Sheppard, C. Ladd-Acosta, B. K. Lee, J.
Bonner, G. Windham, L. Schieve, L. Croen, A. Reynolds,
D. Schendel, C. Newschaffer, M. D. Fallin.
464
W Understanding revisions to the human reference
genome and assembly model.
D. Church, P. Flicek, T.
Graves, T. Hubbard, V. Schneider, The Genome Reference
Consortium.
465
F Evolutionary history and genome organization
of DUF1220 protein domains.
M. O’Bleness, C. M.
Dickens, D. Albracht, H. Kotkiewicz, T. Graves, R. Wilson,
J. Sikela.
466
W Retrotransposition of gene transcripts leads
to structural variation in mammalian genomes.
A. D.
Ewing, T. Ballinger, D. Earl, D. Haussler.
467
F Whole genome sequencing of iPS cells
reveals somatic mutation arising at latest stages of
reprogramming.
M. Cortes, J. S. Seo.
468
W Possible genomic impact of SVA retrotransposon
in humans similar to that in gibbons.
T. Hara, Y. Hirai, H.
Hirai, A. Koga.
469
F Functional studies of tandem repeat variation
in the human genome using multiplexed capture and
high-throughput sequencing.
A. Guilmatre, G. Highnam,
D. Mittelman, A. J. Sharp.
470
W Meta-analysis with dbGaP data on genome-wide
association studies for Alzheimer’s disease.
J. H. Kim.
471
F A survey of the mutational load in genes
associated with rare Mendelian disorders and autism.
A. R. Rao, S. F. Nelson.
472
W Inferring mechanisms of indel mutation from
whole genome sequence.
I. H. C. Turner, Z. Iqbal, G.
McVean.