Page 100 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS
Wednesday, October 23
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session A (10-18)
SESSION 17 – Structural/Copy Number Variation and
Disease
Grand Ballroom AB, Concourse Level, Westin Boston
Waterfront Hotel
Moderators
:
Steven McCarroll, Harvard Med. Sch.;
David Miller, Boston Children’s Hosp.
70
/2:00
Large-scale parent-child trio sequencing
highlights factors influencing spontaneous
human mutation.
S. Sunyaev, P. Polak, L. Francioli,
W. Kloosterman, P. I. W. de Bakker, Genome of
Netherlands (GoNL) Consortium.
71
/2:15
Palindromic
GOLGA
core duplicon
promotes 15q13.3 microdeletion, inversion
polymorphisms, and large-scale primate structural
variation.
M. Y. Dennis, F. Antonacci, J. Huddleston,
P. H. Sudmant, K. Meltz Steinberg, T. A. Graves, M.
Malig, L. Vives, L. Denman, C. Baker, C. T. Amemiya,
A. Stuart, W. J. Tang, B. Munson, J. A. Rosenfeld, L.
G. Shaffer, R. K. Wilson, E. E. Eichler.
72
/2:30
Large-scale genotyping of polymorphic
inversions in human populations.
S. Villatoro, C.
Aguado, D. Vicente, D. Izquierdo, M. Puig, M. Cáceres.
73
/2:45
SCRIB
and
PUF60
are primary drivers of
the multisystemic phenotypes of the 8q23.4 CNV.
C. Golzio, A. Dauber, F. M. Jodelka, C. Guenot, J.
S. Beckmann, J. N. Hirschhorn, M. L. Hastings, S.
Jacquemont, N. Katsanis.
74
/3:00
Functional dissection of the recurrent
reciprocal 1q21.1 autism-associated CNV.
N. Katsanis, I. Blumenthal, A. Ragavendran, M. E.
Talkowski, C. Golzio.
75
/3:15
Discovery of genes responsible for
neurocognitive disease by large scale integration
of sequence and copy number data.
B. P. Coe, K.
T. Witherspoon, C. Baker, B. O’Roak, J. Schuurs-
Hoeijmakers, J. Shendure, B. deVries, J. Gecz, M.
Fichera, C. Romano, L. G. Shaffer, J. A. Rosenfeld, E.
E. Eichler.
76
/3:30
Mind the gap — Exomes and CNVs testing
in primary immunodeficiencies.
A. Stray-Pedersen,
H. S. Sorte, P. S. Samarakoon, L. Forbes, T. Gambin,
O. K. Rødningen, I. C. Hanson, L. M. Noroski, C.
Davis, F. Seeborg, S. K. Nicholas, J. W. Caldwell,
C. R. Beck, T. J. Vece, W. Wiszniewski, SJ Penney,
S. N. Jhangiani, L. Mæhle, A. Patel, H. C. Erichsen,
TE Abrahamsen, G. E. Tjonnfjord, B. E. Kristiansen,
M. Kulset, L. T. Osnes, W. T. Shearer, B. Fevang,
K. R. Heimdal, D. E. Undlien, R. A. Gibbs, R. Lyle,
J. S. Orange, J. R. Lupski, Centers for Mendelian
Genomics.
77
/3:45
Absence of heterozygosity accompanying
complex human genomic rearrangements: Further
evidence for replicative mechanisms.
C. M. B.
C. Fonseca, R. Pfundt, L. W. Zuccherato, P. Liu, P.
Stankiewicz, C. W. Brown, C. A. Shaw, G. Ira, P. J.
Hastings, H. G. Brunner, J. R. Lupski.
78
/4:00
Individual gene disruptions from balanced
chromosomal rearrangements define novel
neurodevelopmental loci and genomic disorders.
H. Brand, V. Pillalamarri, I. Blumenthal, M. Stone, S.
Pereira, C. Morton, J. Gusella, M. Talkowski.