Page 97 - ASHG 2012 Annual Meeting Program Guide

86
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
SESSION 29 – Next-Generation Sequencing: Methods
and Applications
Hall D, Lower Level North, Moscone Center
Moderators
:
John S. Witte, UCSF; Priya Duggal, Johns
Hopkins Bloomberg Sch of Publ. Hlth.
88
/10:30
The value of population-specific reference
panels for genotype imputation in the age of
whole-genome sequencing.
C. Fuchsberger, B.
Howie, M. Laakso, M. Boehnke, G. Abecasis on behalf
of Genetics of Type-2 Diabetes Consortium.
89
/10:45
Fast and accurate 1000 Genomes
imputation using summary statistics or low-
coverage sequencing data.
B. Pasaniuc, N. Zaitlen,
G. Bhatia, A. Gusev, N. Patterson, A. L. Price.
90
/11:00
Accurate haplotype estimation using
phase informative sequencing reads.
O. Delaneau,
J.-F. Zagury, J. Marchini.
91
/11:15
An LD-based method for genotype calling
and phasing using low-coverage sequencing reads
and a haplotype scaffold.
A. Menelaou, J. Marchini.
92
/11:30
Mixed functional linear model for
sequence-based quantitative trait association
studies unifying population and family study
designs.
M. Cao, Y. Zhu, M. Xiong.
93
/11:45
Rare variant extensions of the
transmission disequilibrium test detects
associations with autism exome sequence data.
Z.
He, B. O’Roak, J. Smith, G. Wang, M. Kan, S. Hooker,
B. Li, N. Krumm, D. Nickerson, E. Eichler, S. Leal.
94
/12:00
Methods for noninvasive prenatal
determination of fetal genomes.
M. W. Snyder,
J. O. Kitzman, M. Ventura, A. P. Lewis, R. Qiu, L. E.
Simmons, H. S. Gammill, C. E. Rubens, D. A. Santillan,
M. K. Santillan, J. C. Murray, H. K. Tabor, M. J.
Bamshad, E. E. Eichler, J. A. Shendure.
95
/12:15
Associating complex traits with rare
variants identified by NGS: Improving power by a
position-dependent kernel approach.
U. Bodenhofer,
S. Hochreiter.
96
/12:30
The Kaiser Permanente/UCSF Genetic
Epidemiology Research Study on Adult Health and
Aging: Demographic and behavioral influences on
telomeres and relationship with all-cause mortality.
C. Schaefer, S. Sciortino, M. Kvale, K. Lapham, J. Lin,
D. Ranatunga, S. Rowell, M. Sadler, S. Miles,
W. McGuire, D. Ludwig, L. Walter, I. Listerman, S. Van
Den Eeden, R. Whitmer, C. Quesenberry, N. Risch,
E. Blackburn.
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
SESSION 30 – Genetics and Intellectual Disability
Gateway Ballroom 103, Lower Level South, Moscone
Center
Moderators
:
Roger Reeves, Johns Hopkins Univ.; Heidi
Rehm, Harvard Univ.
97
/10:30
Diagnostic exome sequencing in patients
with intellectual disability of unknown cause.
J. de
Ligt, M. H. Willemsen, B. W. M. van Bon, T. Kleefstra,
H. G. Yntema, T. Kroes, A. T. Vulto-van Silfhout, D. A.
Koolen, P. de Vries, C. Gilissen, A. Hoischen, H.
Scheffer, B. B. A. de Vries, H. G. Brunner,
J. A. Veltman, L. E. L. M. Vissers.
98
/10:45
C-terminal deletions of the
AUTS2
locus
cause distinct syndromic features and cognitive
impairment.
E. Voorhoeve, G. Beunders, C. Golzio, L.
Pardo, J. Rosenfeld, M. Talkowski, I. Simonic, A.
Lionel, S. Vergult, R. Pyatt, J. van de Kamp, A. Nieu-
wint, M. Weiss, P. Rizzu, D. Posthuma, L. Verwer, H.
Meijers-Heijboer, B. Menten, G. Mortier, S. Scherer,
E. Eichler, S. Girirajan, N. Katsanis, A. Groffen, E.
Sistermans.
99
/11:00
Autism traits in the RASopathies.
I. Corbin,
G. Desachy, K. Rauen, L. Weiss.
100
/11:15
Identification of novel recessive
mutations in genes for intellectual disability.
B. De
Vries, J. H. M. Schuurs-Hoeijmakers, A. T. Vulto-van
Silfhout, L. E. L. M. Vissers, J. de Ligt, C. Gilissen,
I. van de Vondervoort, M. T. Greally, C. W. Ockeloen,
M. H. Willemsen, E. M. Bongers, G. Hira, J. Y. Hehir-
Kwa, R. Pfundt, T. Kleefstra, K. Neveling, S. Reinateo,
A. Vitello, P. Failla, D. Greco, M. Fichera, O. Galesi,
B. W. M. van Bon, J. A. Veltman, C. Romano,
M. A. Willemsen, H. G. Brunner, H. van Bokhoven,
A. P. M. de Brouwer.
101
/11:30
Causal de novo SNVs, indels and CNVs in
children with undiagnosed developmental
disorders.
M. Hurles, M. van Kogelenberg, K. Morley,
T. Fitzgerald, S. Gerety, A. Tivey, S. Gribble, S. Al-Turki,
S. Clayton, C. Wright, J. Barrett, H. Firth, D.
FitzPatrick, N. Carter on behalf of DDD Project.
102
/11:45
Making headway with the molecular and
clinical definition of rare genetic disorders with
intellectual disability.
M. H. Willemsen, W. M.
Wissink-Lindhout, L. E. M. Vissers, A. P. M. de
Brouwer, J. H. M. Rensen, N. de Leeuw, R. Pfundt, H.
G. Yntema, J. de Ligt, J. A. Veltman, H. G. Brunner,
H. M. J. Lantman - de Valk, B. C. J. Hamel, H. van
Bokhoven, T. Kleefstra.