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Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19)
SESSION 15 – GeneticTesting and Counseling
Room 511, Level 5, Convention Center
Moderators:
Alain Verloes, Hosp. Robert Debre,
France; Michele Ramsay, NHLS, Johannesburg, South
Africa
43
/4:15
Intragenic copy number changes detected
by an exon-targeted array in patients with
neurodevelopmental disorders.
S. W. Cheung, C.
Shaw, S.-H. L. Kang, J. Pham, A. Ester, P. Luke, P. M.
Hixson, A. N. Pursley, P. M. Boone, C. A. Bacino, S.
Lalani, F. Probst, W. Bi, A. L. Beaudet, J. R. Lupski, A.
Patel, P. Stankiewicz.
44
/4:30
Genome-wide testing the most frequent
genetic diseases optimizes abnormal gene identity
and test reliability.
R. V. Lebo, W. W. Grody.
45
/4:45
Bringing current research technology to the
clinic: The Manton Center for Orphan Disease
Research Gene Discovery Core.
M. C. Connolly, J.
Picker, I. A. Holm, A. H. Beggs, P. B. Agrawal.
46
/5:00
Genetic diagnostics using next-generation
sequencing: The CEO Genome Project.
C. T.
Caskey, M. L. Gonzalez-Garay.
47
/5:15
An Internet-based approach to enhance
genetic data discovery in ALS.
C. Brownstein, T.
Vaughan, P. Wicks.
48
/5:30
National Thalassaemia Registry: An
effective strategy for thalassaemia control.
I. Ng, G.
P. Tan, Y. M. Tan, H. Y. Law.
49
/5:45
Understanding the psychosocial impact of
Klinefelter syndrome.
A. S. Herlihy, R. I. McLachlan,
L. Gillam, J. L. Halliday.
50
/6:00
The influence of genetic risk information on
parental role identity in adolescent girls and young
women from families with Fragile X syndrome.
A.
McConkie-Rosell, E. M. Heise, G. A. Spiridigliozzi.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19
SESSION 16 – Statistical Genetics I: Functional
Consequences of Genetic Variation
Room 516, Level 5, Convention Center
Moderators:
Camilla Day, CIDR/NIH, USA; Adebowa
Adeyemo, Howard Univ., USA
51
/4:15
Multivariate linkage analysis points to a
shared genetic component between mycobacteri
triggered TNF production and innate resistance t
tuberculosis infection.
A. Cobat, E. Hoal, E. Schurr
A. Alcais.
52
/4:30
Major histocompatibility complex
association to rheumatoid arthritis is explained b
polymorphic amino acids in the binding grooves
HLA-DR, HLA-B, and HLA-DP.
P. I. W. de Bakker,
A. Stahl, X. Jia, L. Alfredsson, L. Padyukov, K. A.
Siminovitch, L. Klareskog, J. Worthington, R. M.
Plenge, P. K. Gregersen, S. Raychaudhuri.
53
/4:45
Mulitple signals of association at known
loci explain additional phenotypic variation and
reveal complex patterns of association.
T. M.
Frayling, A. R. Wood, D. G. Hernandez, M. A. Nalls,
Yaghootkar, J. R. Gibbs, L. W. Harries, S. Chong, M.
Moore, M. N. Weedon, J. M. Guralnik, S. Bandinelli,
Murray, L. Ferrucci, A. B. Singleton, D. Melzer.
54
/5:00
Expression quantitative trait locus analys
in an experimental cohort identifies multiple loci
strongly associated with the human response to
influenza vaccination.
L. Franco, K. L. Bucasas, J.
Quarles, J. M. Wells, N. Arden, D. Niño, R. B. Couc
C. A. Shaw, J. W. Belmont.
55
/5:15
Meta-analysis on eQTL mapping identify
common and tissue-specific eQTLs in LCL, PBM
and skin tissues.
H. Chen, J. Esparza, J. Ding, G.
Abecasis, Y. Lee, M. F. Moffatt, W. O. C. Cookson,
Liang.
56
/5:30
Simultaneous clustering and significance
testing of transcription factor binding predictions
from gene expression data.
K. S. Kompass, D. C.
Beebe, J. S. Witte.
57
/5:45
Quantifying significance of phenotype-
genotype relationships when various sources of
high throughput data on the same individuals are
integrated.
H. K. Im, E. R. Gamazon, M. E. Dolan,
S. Huang, N. J. Cox.
58
/6:00
GPU accelerated genotype imputation fo
low-coverage high-throughput whole-genome
sequencing data.
K. Wang, G. K. Chen.