Page 116 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
105
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INVITED AND PLATFORM SESSIONS
Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
SESSION 53 – From SNP to Function in Complex Traits
Room 132, Lower Level North, Moscone Center
Moderators
:
Praveen Sethupathy, Univ. of North
Carolina at Chapel Hill; Aravinda Chakravarti,
McKusick-Nathans Inst. of Genet. Med., Baltimore
304
/8:00
The type 2 diabetes risk allele of
rs11603334 increases
ARAP1
promoter activity
and is associated with increased
ARAP1
mRNA
in pancreatic islets.
J. R. Kulzer, M. L. Stitzel, M. A.
Morken, F. S. Collins, K. L. Mohlke.
305
/8:15
NOS1AP
is the major genetic
electrocardiographic QT-interval regulator.
A. Kapoor, R. B. Sekar, V. Pihur, M. K. Halushka,
G. F. Tomaselli, A. Chakravarti.
306
/8:30
A regulatory polymorphism in Csk, a Lyp
binding partner, associates with systemic lupus
erythematosus and affects B cell signaling,
maturation and activation.
N. Manjarrez-Orduño,
E. Marasco, S. A. Chung, M. S. Katz, J. F. Kiridly,
K. R. Simpfendorfer, J. Freudenberg, D. H. Ballard,
E. Nashi, T. J. Hopkins, D. S. Cunninghame Graham,
A. T. Lee, M. J. H. Coenen, B. Franke, D. S. Swinkels,
R. Graham, R. P. Kimberly, P. M. Gaffney, T. J. Vyse, T.
W. Behrens, L. A. Criswell, B. Diamond,
P. K. Gregersen.
307
/8:45
ITGAM
coding variant, rs1143679 (R77H)
that is associated with systemic lupus
erythematosus (SLE) susceptibility affects its
own expression in monocytes and ligand binding
activities in SLE patients.
A. K. Maiti, X. Kim-Howard,
P. Motghare, J. M. Anaya, L. Loogers, S. K. Nath.
308
/9:00
Loss-of-function of semaphorins 3C and
3
D in Hirschsprung disease.
Q. Jiang, K. P. Kilambi,
T. Heanue, M. X. Sosa, Q. Wang, J. J. Gray,
A. L. Kolodkin, D. D. Ginty, A. Chakravarti.
309
/9:15
Functional assessment of human coding
polymorphisms affecting skin pigmentation using
zebrafish.
Z. Tsetskhladze, V. Canfield, K. Ang,
S. Wentzel, K. Reid, A. Berg, S. Johnson,
K. Kawakami, K. Cheng.
310
/9:30
Dosage effects of 169 Chr21 genes on
early development events in zebrafish.
S. Edie,
N. Zaghloul, D. Klinedinst, J. Lebron, N. Katsanis,
R. Reeves.
311
/9:45
Two birds, one stone: Epistasis profiling of
many single-nucleotide variants in a human gene.
O. Zill, J. Kitzman, J. Shendure, S. Fields.
312
/10:00
Discovery and replication of pathway-
based trans-eQTL associations.
L. Wiley, W. Bush.
Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
SESSION 54 – Genetic Counseling and Clinical Testing
Room 130, Lower Level North, Moscone Center
Moderators
:
Susan Hahn, Univ. of Miami, Hussman
Inst. for Human Genomics; Andrew Faucett, Geisinger
Hlth. Syst., Danville, PA
313
/8:00
Utilization of chromosomal microarrays in
pediatrics.
A. H. Seeley, C. E. Keegan, C. S.
Remmert, B. A. Tarini.
314
/8:15
Maximizing detection and minimizing
noise: The first report of large scale whole exome
sequencing data interpretation in a clinical
laboratory.
F. Xia, J. Beuten, M. Bainbridge, Z. Niu,
M. Vatta, M. R. Bekheirnia, R. E. Person, M. Hardison,
J. G. Reid, D. P. Sexton, A. C. Hawes, P. A. Pham, M.
Wang, N. Saada, W. Liu, H. Sun, M. Scheel, Y. Ding,
A. Roy, J. Wiszniewska, A. Willis, D. M. Muzny, S. E.
Plon, J. R. Lupski, A. L. Beaudet, R. A. Gibbs, C. M.
Eng, Y. Yang.
315
/8:30
Efficient detection of causative mutations
for rare diseases: Rethinking clinical practice.
H. Lee, J. Deignan, T. Toy, B. Harry, M. Yourshaw,
P. Taylor, S. Webb, N. Dorrani, K. Das, F. Quintero,
S. Kantarci, D. A. Wong, W. W. Grody, E. Vilain,
S. F. Nelson.
316
/8:45
Intentions to receive individual results
from whole-genome sequencing among
participants in the ClinSeq™ study.
B. B. Biesecker,
F. M. Facio, H. Eidem, T. Fisher, S. Brooks, A. Linn,
K. A. Kaphingst, L. G. Biesecker.
317
/9:00
Changes to control perceptions following
disclosure of
APOE
-
coronary artery disease
associations during genetic susceptibility testing
for Alzheimer’s disease: Findings from the REVEAL
Study.
K. Christensen, J. S. Roberts, W. R. Uhlmann,
P. J. Whitehouse, T. O. Obisesan, D. L. Bhatt,
L. A. Cupples, R. C. Green.
318
/9:15
Decreased prediction ability of common
genetic variants on breast cancer risk with age:
Possible underlying models and impact on risk
prediction.
H. Aschard, S. Lindstrom, P. Kraft.
319
/9:30
Large-sample size, comprehensive catalog
of variants and advanced machine learning
technique boost risk prediction for inflammatory
bowel disease.
Z. Wei, W. Wang, J. Bradfield,
E. Frackelton, C. Kim, F. Mentch, R. Baldassano,
H. Hakonarson, International IBD Genetics
Consortium.
320
/9:45
A comparison of risk estimates for
complex diseases: Navigenics SNP-based testing
and family history assessment.
L. Aiyar, C. Shuman,
R. Hayeems, L. Velsher, S. Wodak, D. Chitayat,
J. Davies.