Page 138 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
Genome Structure, Variation and
W Capture of chromosome conformation changes
in breast cancer cell lines.
C. Liu, C. Woo, P. Yim, S.
Dong, J. Stevens.
F Myc-induced anchorage of the rDNA intergenic
spacer region to nucleolar matrix modulates growth-
stimulated changes in higher-order rDNA architecture.
C. Shiue, A. Nematollahi-Mahani, A. Wright.
W CENcode: Linear assembly and epigenetic
annotation of human centromeres.
K. E. Hayden, J.
F Impact of genetic variation on genome-wide
epigenetic profiles and gene expression phenotypes.
A. Reymond, H. Kilpinen, S. Waszak, A. Gschwind, E.
Migliavacca, R. M. Witwicki, S. Raghav, A. Orioli, L.
Romano-Palumbo, M. Wiederkehr, S. Turnherr, D. Hacker,
M. Gutierrez-Arcelus, L. J. Core, J. T. Lis, N. Hernandez, B.
Deplancke, E. T. Dermitzakis.
W Capturing long-range chromatin interactions
of chromatin regulatory elements.
N. Heidari, D. H.
Phanstiel, W. Soon, M. P. Snyder.
F PRDM9 directs genetic recombination away from
functional genomic elements.
K. Brick, F. Smagulova, P.
Khil, R. D. Camerini-Otero, G. Petukhova.
W ATRX interacts with the MRN complex to play
a key role in the replication of non-canonical DNA
structures associated with tandem repeats.
R. Gibbons,
D. Clynes, C. Jelinska, H. Ayyub, D. R. Higgs.
F Genome-wide copy number variation analysis
of a branchio-oto-renal syndrome cohort identifies
a recombination hotspot associated with an EYA1
deletion and novel candidate genomic regions.
F. Alasti,
P. Brophy, B. Darbro, J. Dierdorff, C. Nishimura, B. Cobb,
J. Clarke, M. Hakeman, A. Bassuk, R. J. H. Smith, J. R.
W Delineation of the reliability of in silico copy
number variation calls from different Illumina SNP
S. Herms, L. Priebe, F. Degenhardt, M. M.
Noethen, S. Cichon, P. Hoffmann.
F The Kaiser Permanente/UCSF Genetic
Epidemiology Research Study on Adult Health and
Aging: Detecting copy number variation in a multi-
ethnic cohort of 100,000.
C. Sabatti, Z. Zhang, Y. Banda,
M. Kvale, T. Hoffman, S. Hesselson, H. Tang, P.-Y. Kwok,
C. Schaefer, N. Risch.
W Genomic copy number variation affects brain
structure volumes in schizophrenia.
T. H. Wassink,
J. Manak, D. Rudd, E. Epping, F. Fleming, G. Zeien, S.
Ziebell, B. C. Ho, N. C. Andreasen.
F The use of matepair sequencing in the detection
of structural variation in patients with ID and/or
congenital anomalies.
S. Vergult, E. Van Binsbergen,
T. Sante, S. Nowak, O. Vanakker, S. Janssens, K. Claes,
B. Poppe, N. Van der Aa, F. Roelens, A. De Paepe, F.
Speleman, E. Cuppen, W. Kloosterman, B. Menten.
W At the crossroads of structure and function: SNP
genotypes indexed by copy number yield novel eQTLs.
L. K. Davis, E. R. Gamazon, N. J. Cox.
F Extensive genetic variation in somatic human
M. O’Huallachain, K. J. Karczewski, S. Weissman,
A. E. Urban, M. Snyder.
W Copy number variations in a cohort of
Brazilian sickle cell anemia patients with and without
cerebrovascular accident.
G. Ananina, F. Menaa, M. A.
Bezerra, A. S. Araujo, P. R. S. Cruz, G. P. Gil, F. F. Costa,
M. B. Melo.
F Prevalence and effects of the obesity associated
deletion on chromosome 16p11.2 in the Swedish
Obese Subjects study.
J. C. Andersson-Assarsson, S.
Romeo, L. Sjöström, L. M. S. Carlsson.
W Molecular study of the inverted repeats
responsible for triplication of the PLP1 locus.
C. R.
Beck, C. M. B. Carvalho, J. R. Lupski.
F Novel sequence-based CNV detection framework
allows fine-mapping of the CFH region in 150 Chinese
Singaporeans with age-related macular degeneration.
E. Bellos, L. Coin, T. Y. Wong, C. Y. Cheng, G. Cheung, M.
Hibberd, V. Kumar, S. Davila.
W Incidental copy-number variants identified by
routine genome testing in a clinical population.
P. M.
Boone, Z. T. Soens, I. M. Campbell, P. Stankiewicz, S. W.
Cheung, A. Patel, A. L. Beaudet, S. E. Plon, C. A. Shaw, A.
L. McGuire, J. R. Lupski.
F Parental age and burden of genomic copy
number variation.
J. Buizer-Voskamp, H. M. Blauw, M. P.
M. Boks, K. R. Van Eijk, J. H. Veldink, E. A. M. Hennekam,
J. A. S. Vorstman, F. Mulder, H. Tiemeier, A. G. Uitterlinden,
L. A. Kiemeney, L. H. Van den Berg, R. S. Kahn, C. Sabatti,
R. A. Ophoff.
W Genome-wide analyses of recurrent genomic
rearrangements: Identification of three novel genomic
P. Dittwald, T. Gambin, P. Szafranski, J. Li,
R. S. Amato, M. Divon, K. Maliszewski, E. E. Dolgado
Bohorquez, L. Elton, A. C.-H. Tsai, D. Scott, S.-H. L.
Kang, A. M. Breman, S. R. Lalani, C. Bacino, W. Bi, A.
Milosavljevic, J. R. Lupski, A. L. Beaudet, C. A. Shaw, A.
Patel, A. Gambin, S. W. Cheung, P. Stankiewicz.
F DUF1220 domain copy number loss implicated in
q21-associated microcephaly.
L. Dumas, M. O’Bleness,
J. Davis, C. M. Dickens, N. Anderson, J. G. Keeney, J.
Jackson, M. Sikela, A. Raznahan, J. Giedd, J. Rapoport, S.
S. C. Nagamani, A. Erez, N. Brunetti-Pierri, R. Sugalski, J.
R. Lupski, T. Fingerlin, S. W. Cheung, J. M. Sikela.