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Saturday, October 15
1:30
PM
–3:30
PM
Concurrent Platform Session D (68-77)
SESSION 73 – Genomics IV: Disease and Chromatin
Room 511, Level 5, Convention Center
Moderators:
Alex Hoischen, Radboud Univ. Nijmegen,
Netherlands; Matthew Hurles, Wellcome Trust Sanger
Inst., U.K.
285
/1:30
Rare coding mutations and risk for early-
onset myocardial infarction: An exome sequencing
study of >2,000 cases and controls.
R. Do on behalf
of NHLBI Exome Sequencing Project, Early-Onset
Myocardial Infarction.
286
/1:45
Identification of familial cancer
susceptibility genes using whole exome
sequencing.
I. G. Campbell, J. Ellul, J. Li, M. Doyle, E.
R. Thompson.
287
/2:00
Genome-wide gene-environment study
identifies glutamate receptor gene
GRIN2A
as a
Parkinson’s disease modifier gene via interaction
with coffee.
H. Payami, T. H. Hamza, H. Chen, E. M.
Hill-Burns, S. L. Rhodes, J. Montimurro, D. M. Kay, A.
Tenesa, V. I. Kusel, P. Sheehan, M. Eaaswarkhanth, D.
Yearout, A. Samii, J. W. Roberts, P. Agarwal, Y.
Bordelon, Y. Park, L. Wang, J. Gao, J. M. Vance, K. S.
Kendler, S. Bacanu, W. K. Scott, B. Ritz, J. Nutt, C. P.
Zabetian, S. A. Factor.
288
/2:15
Targeted next-generation DNA sequencing
of the mitochondrial proteome.
A. G. Compton, S. E.
Calvo, S. G. Hershman, S. C. Lim, C. Garone, E. J.
Tucker, A. Laskowski, D. S. Lieber, S. Liu, J.
Christodoulou, J. M. Fletcher, S. DiMauro, D. R.
Thorburn, V. K. Mootha.
289
/2:30
Megabase deletion of the William-Beuren
syndrome critical region reveals remarkable
robustness in chromatin interaction landscape.
N.
Gheldof, M. Leleu, J. Rougemont, A. Reymond.
290
/2:45
Variation in chromatin accessibility is a
key determinant of heritable variation in gene
expression.
J. Degner, A. Pai, R. Pique-Regi, J. B.
Veyrieras, D. Gaffney, J. Pickrell, S. De Leon, K.
Michelini, N. Lewellen, G. Crawford, M. Stephens, Y.
Gilad, J. Pritchard.
291
/3:00
Cell- and individual-specific open
chromatin in primary human blood cells.
P.
Deloukas, K. Voss, S. Kanoni, C. A. Albers, A. Rendon,
K. Stirrups, D. Paul.
292
/3:15
A complete haploid human reference
genome using a hydatidiform mole resource.
W. C.
Warren, R. Agarwala, T. Graves, C. Alkan, F.
Antonacci, M. Dennis, B. Fulton, S. Shiryaev, D. M.
Church, P. Minx, U. Surti, M. Nefedov, P. J. de Jong,
E. Mardis, E. Eichler, R. K. Wilson.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Saturday, October 15
1:30
PM
–3:30
PM
Concurrent Platform Session D (68-77
SESSION 74 – From Sequence to Function
Room 516, Level 5, Convention Center
Moderators:
Hamish Scott, SA Pathology, Australia;
Brunhilde Wirth, Univ. of Cologne, Germany
293
/1:30
Identification of three novel genes for
Kleefstra syndrome-associated phenotypes
establishes a chromatin modification module of t
EHMT1
gene network.
T. Kleefstra, J. Kramer, L. E.
M. Vissers, M. H. Willemsen, K. Neveling, T. Koema
W. M. Nillesen, H. Zhou, T. Prescott, R. D. Clark, W.
Wissink-Lindhout, H. G. Brunner, A. P. M. de Brouw
H. G. Stunnenberg, J. A. Veltman, A. Schenck, H. v
Bokhoven.
294
/1:45
Functional evaluation of candidate
mutations identified in whole-exome sequencing
patient genomes.
Y. Hitomi, E. K. Ruzzo, K. Pelak,
V. Shianna, D. B. Goldstein.
295
/2:00
Identification of non-coding mutations i
X-linked intellectual disability.
J. Gecz, L. L. Huan
S. Willis-Owen, M. Field, A. Hackett, M. Shaw, C.
Shoubridge, A. Gardner, M. Corbett.
296
/2:15
Small lethal non-coding copy-number
variations in the gene desert region on 16q24.1.
Szafranski, A. de Klein, J. Pinner, K. E. Kolodziejska,
Ou, K. N. Mohan, M. Chopra, G. Peters, S. Arbuckle
S. F. Guiang, V. Hustead, R. Hirsch, D. Witte, C.
Langston, P. Sen, P. Stankiewicz.
297
/2:30
Iron homeostasis modulates the activity
microRNA pathway through
PCBP2
.
Y. Li, L. Lin,
Li, X. Ye, B. Aryal, Z. Paroo, Q. Liu, C. He, P. Jin.
298
/2:45
Genome-wide poly(A) mapping reveals
widespread changes in use of polyadenylation si
in oculopharyngeal muscular dystrophy.
E. de Kle
A. Venema, S. Y. Anvar, J. J. Goeman, J. T. den
Dunnen, G. B. van Ommen, S. M. van der Maarel, V
Raz, P. A. C. ’t Hoen.
299
/3:00
Transcriptional activation of lysosomal
exocytosis promotes cellular clearance.
D. L.
Medina, A. Fraldi, V. Bouche, F. Annunziata, G.
Mansueto, C. Spampanato, C. Puri, A. Pignata, J. A
Martina, M. Sardiello, R. Polishchuk, R. Puertollano,
Ballabio.
300
/3:15
Development and pharmacological resc
of a murine model of primary open angle
glaucoma.
G. Zode, M. Kuehn, C. Searby, K. Moha
S. Grozdanic, D. Nishimura, K. Bugge, M. Anderson
A. Clark, E. Stone, V. Sheffield.