Page 121 - ASHG 2012 Annual Meeting Program Guide

110
INVITED AND PLATFORM SESSIONS
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Friday, November 9
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session E (59-67)
SESSION 59 – Genome Structure and Variation
Hall D, Lower Level North, Moscone Center
Moderators
:
John Moran, Univ. of Michigan Med. Sch.;
Ryan Mills, Univ. of Michigan Med. Sch.
331
/4:30
A map of human genetic variation: Update
from the 1000 Genomes Project.
F. Yu, 1000
Genomes Consortium.
332
/4:45
Towards a whole genome map of heritable
copy number variation.
S. Aradhya, L. Matyakhina,
D. Pineda Alvarez, D. Riethmaier, A. Fuller, G. Richard,
J. Meck.
333
/5:00
Charting the population-scale landscape
of short tandem repeat variation in humans.
M . Gymrek, J. Chen, C. O’Dushlaine, M. Daly,
D. Reich, Y. Erlich.
334
/5:15
Whole-genome sequencing analysis of
iPSC lines uncovers lineage-manifested CNVs.
A . E. Urban, A. Abyzov, D. Palejev, L. Rosenberg-
Belmaker, Y. Zhang, J. Mariani, L. Tomasini,
A. Ferrandino, A. Szekely, M. Wilson, M. Haney,
E. Grigorenko, A. Huttner, S. Weissman, M. Gerstein,
F. Vaccarino.
335
/5:30
SNP markers identify areas with restricted
recombination suggesting structural variation
across the human genome is widespread.
P. G. Hysi, B. Tamraz, A. Nag, C. Venturini, J. S.
Rahi, T. D. Spector, C. J. Hammond.
336
/5:45
Mapping the L1 interactome reveals RISC-
associated helicase
MOV10
as a potent inhibitor
of retrotransposition.
J. Goodier, L. Cheung, H. H.
Kazazian.
337
/6:00
FoSTeS/MMBIR replicative repair
mechanisms are error prone: High frequency of
nucleotide variation at the breakpoint junctions.
C. M. B. Carvalho, M. B. Ramocki, D. Pehlivan,
P. Fang, L. M. Franco, J. W. Belmont, P. J. Hastings,
J. R. Lupski.
338
/6:15
Telomere position effect in patients with
subtelomeric deletions.
J. Gerfen, M. K. Rudd,
H. Mason-Suares.
339
/6:30
De novo CNV formation in mouse
embryonic stem cells occurs in the absence of
Xrcc4-dependent nonhomologous end joining.
M . F. Arlt, S. Rajendran, S. R. Birkeland,
K. M. McSweeney, T. E. Wilson, T. W. Glover.
Friday, November 9
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session E (59-67)
SESSION 60 – Advances in Neurodegenerative Disease
Gateway Ballroom 103, Lower Level South, Moscone
Center
Moderators
:
Jeff Vance, Univ. of Miami;
Tricia Thornton-Wells, Vanderbilt Univ.
340
/4:30
A genome-wide association study for
cerebrospinal fluid tau and amyloid beta 42 identify
new candidate variants implicated in Alzheimer’s
disease.
J. S. K. Kauwe, C. Cruchaga, O. Harari, K.
Mayo, S. Bertelsen, M. Bailey, D. McKean, P. G. Ridge,
T. J. Maxwell, E. Peskind, D. Galasko, A. M. Goate,
ADGC, ADNI, GERAD.
341
/4:45
Analysis of whole transcriptome specific
to the temporal pole of late-onset Alzheimer’s
disease.
C. E. Humphries, M. A. Kohli, P. W.
Whitehead, W. F. Hulme, L. Nathanson, D. C. Mash,
M. A. Pericak-Vance, J. R. Gilbert.
342
/5:00
Rare variants from high-density exome
genotyping in late-onset Alzheimer’s disease:
Update from Alzheimer’s Disease Genetics
Consortium.
L.-S. Wang, A. C. Naj, C. Cruchaga,
S. Mukherjee, C.-F. Lin, O. Valladares, L. B. Cantwell,
R. Graham, T. Behrens, P. K. Crane, A. M. Goate,
M. A. Pericak-Vance, G. D. Schellenberg, Alzheimer’s
Disease Genetics Consortium.
343
/5:15
Common variants in
ABCA7
and
GRIN3B,
HMHA1
and
SBNO2
,
are associated with late-onset
Alzheimer’s disease in African Americans.
C. Reitz,
G. Jun, J. Buros, B. Vardarajan, L.-S. Wang, J. D.
Buxbaum, E. B. Larson, N. Graff-Radford, D. Evans,
N. Ertekin-Taner, M. Logue, C. T. Baldwin, R. C. Green,
L. L. Barnes, L. B. Cantwell, M. D. Fallin, J. Manly,
K. L. Lunetta, M. I. Kamboh, D. A. Bennett, K. Hall,
A. M. Goate, G. S. Byrd, W. A. Kukull, T. M. Foroud,
J. L. Haines, M. A. Pericak-Vance, L. A. Farrer, G.
Schellenberg, R. Mayeux, ADGC Consortium.
344
/5:30
Genome-wide association analyses of
onset age in late-onset Alzheimer disease
demonstrate no strong effect outside of the
APOE
region.
A. C. Naj, Y. S. Park, R. Rajbhandary, K. L.
Hamilton, G. W. Beecham, E. R. Martin, R. Mayeux,
J. L. Haines, L. A. Farrer, G. D. Schellenberg,
M. A. Pericak-Vance, Alzheimer’s Disease Genetics
Consortium.
345
/5:45
Identification by exome analysis of the
molecular bases of familial idiopathic basal ganglia
calcification not related to
SLC20A2
mutation.
G. Nicolas, C. Pottier, D. Maltête, S. Coutant,
A. Rovelet- Lecrux, S. Legallic, Y. Vaschalde,
L. Guyant-Maréchal, J. Augustin, O. Martinaud,
L. Defebvre, P. Krystkowiak, J. Pariente, I. Le Ber,
T. Frebourg, D. Hannequin, D. Campion.