Page 112 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS
Thursday, October 24
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session C (28-36)
SESSION 33 – Gene Regulation — At a Multitude of
Levels
Room 253, Level 2, Convention Center
Moderators
:
Michael Zwick, Emory Univ.; Sara
Wheelan, Johns Hopkins Univ.
214
/2:00
The evolutionary dynamics of regulatory
DNA in the mouse and human genomes.
J.
Vierstra, E. Rynes, R. Sandstrom, R. E. Thurman, J. A.
Stamatoyannopoulos.
215
/2:15
Widespread exonic transcription factor
binding directs codon usage and protein evolution.
A. B. Stergachis, E. Haugen, A. Shafer, W. Fu, B.
Vernot, J. M. Akey, J. A. Stamatoyannopoulos.
216
/2:30
Short tandem repeat polymorphisms
create an abundant source of expression
variability.
M. Gymrek, S. Georgiev, B. Markus, J.
Chen, P. Villarreal, J. Pritchard, Y. Erlich.
217
/2:45
RNA-DNA sequence differences occur
within seconds following RNA exit PolII active sites
and are responsive to cellular stress.
V. G. Cheung,
I. X. Wang, L. Core, H. Kwak, L. Brady, A. Bruzel, A. L.
Richards, M. Wu, J. T. Lis.
218
/3:00
RNA-seq transcriptome profiling uncovers
how structural variants influence alternative
splicing.
E. Ait Yahya Graison, A. Necsulea, A.
Reymond.
219
/3:15
Exploring regulatory and loss-of-
function variation in personalized multi-tissue
transcriptomes using allele-specific expression.
T. Lappalainen, M. A. Rivas, M. Lek, M. Pirinen,
J. Maller, K. Kukurba, E. Tsang, D. DeLuca, M.
Sammeth, Geuvadis Consortium, M. I. McCarthy, C.
D. Bustamante, S. B. Montgomery, K. Ardlie, D. G.
MacArthur, E. T. Dermitzakis, GTEx Consortium.
220
/3:30
Analysis of the genetic variation and age
interplay on gene expression using RNA-seq data
from multiple tissues.
A. Viñuela, M. N. Davies, A.
Buil, A. A. Brown, H. F. Zheng, J. B. Richards, K. S.
Small, R. Durbin, E. T. Dermitzakis, T. D. Spector.
221
/3:45
Transcriptomes of individual cells.
C.
Borel, P. G. Ferreira, E. Falconnet, P. Ribaux, S. E.
Antonarakis, E. T. Dermitzakis.
222
/4:00
A low-frequency variant in a lincRNA
doubles the risk of pneumococcal bacteraemia
in Kenyan children.
A. Rautanen, M. Pirinen, T. C.
Mills, S. J. Chapman, V. Naranbhai, J. A. Scott, T.
N. Williams, P. Donnelly, A. V. S. Hill, C. A. Spencer,
Wellcome Trust Case Control Consortium 2.
Thursday, October 24
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session C (28-36)
SESSION 34 – Cardiovascular Genetics: Exome
Sequencing and Animal Models
Room 258, Level 2, Convention Center
Moderators
:
Xiaofeng Zhu, Case Western Reserve
Univ.; Bart L. Loeys, Univ. of Antwerp
223
/2:00
Identifying multiple causative genes at a
single GWAS locus.
M. Flister, S. Tsaih, B. Endres, A.
Geurts, J. Lazar, M. Dwinell, C. Moreno, H. Jacob.
224
/2:15
Gene silencing and haploinsufficiency of
Csk
in GWAS locus 15q24 increase blood pressure.
B. Oh, H. Lee, S. Ji, S. Park, M. Kim, B. Jigden, J. Lim,
Y. Lee.
225
/2:30
A novel genetic basis for systemic
vasculitis: Systemic and cutaneous polyarteritis
nodosa are caused by recessive mutations in
an immune-related gene.
R. Segel, S. B. Pierce,
P. Elkan-Navon, T. Walsh, S. Padeh, J. Barash, A.
Zlotogorski, Y. Y. Berkun, J. J. Press, M. Mukamel,
P. J. Hashkes, E. Ling, L. L. Harel, M. Tekin, F.
Yalcinkaya, O. Kasapcopur, E. F. Emirogullari, M.
K. Lee, R. E. Klevit, P. F. Renbaum, A. Weinberg-
Shukron, S. Zeligson, D. Marek-Yagel, M. Shohat, A.
Singer, E. Pras, A. A. Rubinow, Y. Anikster, M. C. King,
E. Levy-Lahad.
226
/2:45
BMP9
mutations cause a vascular
anomaly syndrome with phenotypic overlap
with hereditary hemorrhagic telangiectasia.
J.
McDonald, W. Wooderchak-Donahue, B. O’Fallon,
P. Upton, W. Li, B. Roman, S. Young, P. Plant, G.
Fülöp, C. Langa, N. Morrell, L. Botella, C. Bernabeu, D.
Stevenson, J. Runo, P. Bayrak-Toydemir.
227
/3:00
Identification of a novel cause of X-linked
heterotaxy.
M. Tariq, A. E. Cast, J. W. Belmont, S. M.
Ware.
228
/3:15
Novel and recurrent gain-of-function
mutation in
PRKG1
causes thoracic aortic
aneurysms and acute aortic dissections.
D. Guo,
E. Regalado, D. E. Casteel, R. L. Santos-Cortez, L.
Gong, J. J. Kim, S. Dyack, S. G. Horne, G. Chang, G.
Jondeau, C. Boileau, J. S. Collelli, Z. Li, S. M. Leal,
J. Shendure, M. J. Rieder, M. J. Bamshad, D. A.
Nickerson, C. Kim, D. M. Milewicz, GenTAC Registry
Consortium; NHLBI-Go Exome Sequencing Project.
229
/3:30
Mutations in the
DCHS1
gene cause mitral
valve prolapse in humans.
R. Durst, D. S. Peal, A.
deVlaming, M. Leyne, M. Talkowski, M. Perrocheau,
C. Jett, C. Simpson, M. R. Stone, F. Charles, C.
Chiang, J. A. Rosenfeld, X. Jeunemaitre, A. Hagege,
N. Bouatia-Naji, F. N. Delling, LA. Freed, C. Dina, J. J.
Schott, K. D. Irvine, Y. Mao, K. Sauls, A. Wessels, T.
Motiwala, K. Williams, R. R. Markwald, R. A. Levine, D.
J. Milan, R. A. Norris, S. A. Slaugenhaupt.