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Thursday, October 13
10:15
AM
–12:15
PM
Concurrent Platform Session B (30-39)
SESSION 33 – Perinatal and Reproductive Genetics
Room 517A, Level 5, Convention Center
Moderators:
Cynthia Curry, Univ. of California, San
Francisco, USA; Edith Cheng, Univ. of Washington,
USA
107
/10:15
Introducing array comparative genomic
hybridization into routine prenatal diagnosis
practice: A prospective study on 1166 consecutive
clinical cases.
F. Fiorentino, F. Caiazzo, S.
Napoletano, L. Spizzichino, S. Bono, M. Sessa, A.
Nuccitelli, A. Biricik, A. Gordon, G. Rizzo, M. Baldi.
108
/10:30
Validation of single cell whole genome
amplification for preimplantation genetic
haplotyping and its application using DNA
microarrays.
G. Altarescu, H. El Harar, S. Zeligson, S.
Perlberg, R. Beeri, D. Zeevi, T. Eldar-Geva, I.
Varshaver, E. Margalioth, E. Levy-Lahad, P. Renbaum.
109
/10:45
Are heterozygous carriers of cohesin
mutations at an increased risk of aneuploidy?
B. M.
Murdoch, N. Owen, S. I. Nagaoka, T. J. Hassold, P. A.
Hunt.
110
/11:00
Human embryos with aneuploid cells
documented at the cleavage stage undergo genetic
correction during differentiation to the blastocyst
stage.
P. R. Brezina, A. Benner, R. Ross, A. Barker, K.
Richter, G. R. Cutting, W. G. Kearns.
111
/11:15
Mosaicism do not affect accuracy of 24
chromosomes preimplantation genetic screening
on cleavage stage embryos.
A. Biricik, F. Fiorentino,
G. Kokkali, L. Rienzi, L. Spizzichino, S. Bono, A.
Gordon, F. M. Ubaldi, K. Pantos.
112
/11:30
The transcriptome of a human polar body
accurately reflects its sibling oocyte.
A. Reich, P.
Klatsky, S. Carson, G. Wessel.
113
/11:45
Fetal brain-specific transcripts are
reproducibly found in amniotic fluid.
L. Hui, K. L.
Johnson, D. K. Slonim, D. W. Bianchi.
114
/12:00
The effects of advanced paternal age on
genetic risks are mediated through dysregulation
of
HRAS
signaling in the testis.
A. Goriely, S. J.
McGowan, S. Pfeifer, A. Itani, G. A. T. McVean, A. O.
M. Wilkie.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Thursday, October 13
10:15
AM
–12:15
PM
Concurrent Platform Session B (30-39
SESSION 34 – Genomics II: Disease in Populations
Room 520, Level 5, Convention Center
Moderators:
Kathryn Burdon, Flinders Univ, Australia
Emmanouil T. Dermitzakis, Univ. of Geneva,
Switzerland
115
/10:15
Interpreting disease-associated SNPs
using epigenomics and comparative genomics
signatures.
M. Kellis.
116
/10:30
Near complete characterization of
genetic variation in the Kuusamo population
isolate.
K. Palin, K. Rehnström, O. Pietiläinen, J.
Suvisaari, S. Ripatti, J. Lönnqvist, M. Perola, V.
Salomaa, A. Palotie, R. Durbin.
117
/10:45
Disease-gene identification and sex-
specific mutation rate estimation from whole-
genome sequence data on 21 individuals in a fiv
generation heart disease pedigree.
C. D. Huff, H.
Hu, J. C. Roach, J. Xing, A. F. A. Smit, G. Glusman,
K. Holloway, V. Garg, B. Moore, R. Hubley, H. Li, S.
Montsaroff, D. E. Abbott, L. E. Hood, K. S. Pollard,
B. Jorde, M. Yandell, D. J. Galas, D. Srivastava.
118
/11:00
Comprehensive characterization of
human genome variation by high coverage whole
genome sequencing of forty-four Caucasians.
J.
Zhang, H. Shen, J. Li, C. Xu, Y. Jiang, Z. K. Wu, F.
Zhao, L. Liao, Q. Tian, C. Papasian, H. W. Deng.
119
/11:15
Mining the transcriptomes of malaria-
infected children using joint genotypic and
expression analysis.
Y. Idaghdour, J. Quinlan, E.
Gbeha, C. Rahimy, A. Sanni, P. Awadalla.
120
/11:30
Whole exome sequencing of 258
individuals not selected for cancer history identifi
high-penetrance cancer susceptibility gene
mutations: A genomics-first screen.
W. S.
Rubinstein, J. J. Johnston, F. M. Facio, D. Ng, L. N.
Singh, J. K. Teer, J. C. Mullikin, L. G. Biesecker.
121
/11:45
Empirical assessment of imputation of
coding variants using next-generation sequencin
N. Soranzo, Y. Memari, B. Zhang, J. Harris, G. Guo,
S.-Y. Shin, G. Clement, H. He, V. Anttila, W. Jia, A.
Valdes, B. Dougherty, F. M. Williams, T. Jiang, S. Jo
T. Spector.
122
/12:00
Using whole-genome data to reveal
distant relationships between individuals by
maximum-likelihood analysis of genomic segmen
shared identically by descent.
D. J. Witherspoon,
D. Huff, J. Xing, L. B. Jorde.