Page 102 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS
Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
SESSION 20 – Variants, Variants Everywhere
Grand Ballroom East, Level 3, Convention Center
Moderators
:
Gholson Lyon, Cold Spring Harbor Lab.;
Tuuli Lappalainen, Stanford Univ.
97
/8:00
Frequency uniqueness score: Predicting
the disease risk of coding variants.
A. C. Alexander,
B. E. Engelhardt.
98
/8:15
Exome-based linkage mapping and variant
prioritization for inherited retinal disorders.
D. C.
Koboldt, D. E. Larson, L. S. Sullivan, S. J. Bowne,
R. S. Fulton, E. Sodergren, S. H. Blanton, K. Meltz
Steinberg, S. P. Daiger, R. K. Wilson, G. W. Weinstock.
99
/8:30
Integrative annotation of variants from
1,092
humans: Application to cancer genomics.
E. Khurana, M. Gerstein, Functional Interpretation
Group of 1000 Genomes Consortium.
100
/8:45
Efficiency of whole exome/genome
sequencing for achieving a diagnosis in rare
presentations.
M. C. Towne, A. H. Beggs, P. B.
Agrawal.
101
/9:00
Computational prediction and in vivo
validation of suppressors of human disease
mutations.
D. M. Jordan, E. E. Davis, N. Katsanis,
S. R. Sunyaev.
102
/9:15
The empowered whole genome cohort:
Shareable joint genome interpretation for research
and personal insight.
N. M. Pearson, J. Deschenes,
C. Palm, D. Richards, D. Bassett.
103
/9:30
Understanding molecular mechanisms
of human disease mutations and coding variants
through 3D protein networks.
H. Yu, J. Das, Y. Guo,
X. Wei, X. Wang, B. Thijssen, A. Grimson, S. M. Lipkin,
A. G. Clark.
104
/9:45
Evaluation of power of the Illumina
HumanOmni5M-4v1 BeadChip to detect risk
variants for human complex diseases.
C. Xing, J.
Huang, Y.-H. Hsu, A. L. DeStefano, N. L. Heard-Costa,
P. A. Wolf, S. Seshadri, D. P. Kiel, L. A. Cupples, J.
Dupuis.
105
/10:00
Integrated analysis of protein-coding
variation in over 50,000 individuals.
M. Lek, D. G.
MacArthur, A. Levy Moonshine, M. Rivas, S. Purcell, P.
Sullivan, S. Kathiresan, M. I. McCarthy, M. Boehnke,
S. Gabriel, D. M. Altshuler, G. Getz, M. J. Daly, M. A.
DePristo, Exome Aggregation Consortium.
Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
(
SESSION 19, continued)
94
/9:30
Identification of a second major locus
predisposing to an autosomal dominant inherited
disorder of multiple schwannomas.
L. Messiaen,
J. Xie, A. P. Poplawski, Y. F. Liu, A. R. Gomes, P.
Madanecki, C. Fu, M. R. Crowley, D. K. Crossman,
L. Armstrong, D. Babovic-Vuksanovic, A. Bergner, J.
O. Blakeley, A. Blumenthal, M. S. Daniels, H. Feit, K.
Gardner, S. Hurst, C. Kobelka, C. Lee, R. Nagy, K. A.
Rauen, J. M. Slopis, P. Suwannarat, J. A. Westman, A.
Zanko, B. R. Korf, A. Piotrowski.
95
/9:45
Identification of putative driver mutations
in neurofibromatosis type 1-associated plexiform
neurofibromas.
A. Pemov, H. Li, N. F. Hansen, J. C.
Mullikin, M. Wallace, D. R. Stewart.
96
/10:00
Somatic structural and rare germline
variation in childhood cancers.
D. I. Ritter, B. Powell,
H. Cheung, R. Gibbs, D. A. Wheeler, S. Plon.