Page 150 - ASHG 2013 Program Guide

POSTER SESSIONS
  137
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
572
W Next-generation sequencing of complete
mitochondrial genomes of Slovenian Lebers’s
hereditary optic neuropathy patients revealed one
novel mutation and several probable synergistic
variants.
D. Glavac, M. Tajnik, M. Jarc-Vidmar, M.
Hawlina.
573
T Genetic diversity in black South Africans from
Soweto.
M. Ramsay, S. Hazelhurst, Y. Li, M. Waldvogel, J.
Eichenberger, S. A. Norris, M. Govind, M. Tikly, C. Hon, K.
J. Johnson, N. Hartmann, F. Staedtler, A. May.
574
F The African Genome Variation Project Phase
II: Detailed characterisation of genetic variation in
sub-Saharan Africa.
D. Gurdasani, T. Carstensen, African
Genome Variation Project Phase II Investigators.
575
W The completion of the 1000 Genomes Project.
A. Auton, 1000 Genomes Project Consortium.
576
T Quality control metrics for whole exome
sequence data analysis and detailed genetic variation
from 6,000 disease participants within the UK10K
project.
J. Floyd, on behalf of UK10K Consortium:
Exomes.
577
F Detailed annotated whole genome sequences of
a Tibetan trio family revealed high-altitude genetics
and demographic insights.
M. He, A. Asan, X. Jin, E.
Huerta-Sanchez, R. Wang, Z. Cuo, Y. Shan, Y. Shi, M.
Yang, X. Xie, K. Harris, D. Cao, l. Song, J. Zhao, Z. Su, J.
Zhang, Y. Chang, C. Yu, H. Huasang, J. Luosang, X. Yi, Y.
Liang, R. Nielsen, J. Wang, W. Wang, J. Wang.
578
W Genetic structure and diversity of 38 Singapore
Indians from deep whole-genome sequencing.
L. P.
Wong, H. T. Ong, K. H. Lai, W. Y. Saw, X. Liu, E. P. N. Pillai,
Y. Y. Teo.
579
T Detection of variations and their frequencies of
the
CCR5
gene and its promoter region in Japanese
and Okinawan population by NGS analysis using
pooled DNAs.
T. Kaname, K. Yanagi, M. Higa, S. Song, K.
Naritomi.
580
F Functional characterization of rare variants in
human dopamine receptor D4 gene by genotype -
phenotype correlations.
A. MichealRaj, N. Jatana, Md.
Jafurulla, L. Narayanan, A. Chattopadhyay, B. K. Thelma.
581
W Determining the properties of loss-of-function
variation in candidate essential human genes.
A. R.
Rao, S. F. Nelson, E. Vilain, W. W. Grody, H. Lee.
582
T Functional assessment of genetic variants
associated with Lp(a) levels on chromosome 6q25-26.
K. Chen, W. Lu, Y. Cheng, K. Ma, G. S. Gerhard, C. D. Still,
X. Chu, R. Yang, A. Gorden, M. J. Quon, B. D. Mitchell, A.
R. Shuldiner, M. Fu.
583
F Identification of nine mutations in the
COL1A1
gene in Czech patients with osteogenesis imperfecta.
L. Šormová, I. Fialkowski, W. Van Hul, G. Mortier, I. Marˇík,
I. Mazura.
561
T Mapping of a human genome with a single
molecule nanochannel array platform for genome-wide
structural variation analysis and de novo sequence
assembly of next-generation sequence reads.
Y. Y. Y.
Lai, A. C. Y. Mak, E. T. Lam, J. Silbert, T. P. Kwok, J. W.
Li, A. K. Y. Leung, J. J. K. Wu, A. K. Y. Yim, A. Poon, C.
Chu, C. Lin, M. Requa, A. Hastie, T. Anantharaman, H.
VanSteenhouse, H. Dai, F. Trintchouk, M. Saghbini, M.
Austin, K. Haden, H. Cao, S. M. Yiu, K. Y. Yip, T. F. Chan,
M. Xiao, P. Y. Kwok.
562
F CNP imputation using 1000 Genome Project data
as reference panel and intensity based analysis of
copy number variation in African Americans.
Y. Meng,
J. Nemesh, D. Altshuler, E. J. Benjamin, E. Boerwinkle,
D. Bowden, C. W. K. Chiang, M. Fornage, J. Glessner,
A. Kutlar, G. Lettre, M. Li, S. Musani, G. Papanicolaou,
S. Redline, A. Reiner, S. Rich, D. Siscovick, X. Zhu, H.
Hakonarson, J. G. Wilson, B. Keating, J. N. Hirschhorn, S.
A. McCarroll.
563
W Haplotype imbalance reveals subtle genomic
mosaicism in blood and cell line samples.
S. Vattathil,
X. Xiao, P. Scheet.
564
T Genome-wide bioinformatic analysis
demonstrates distinct
Alu
elements predispose
specific loci to pathogenic structural earrangements.
I. M. Campbell, C. R. Beck, P. M. Boone, C. A. Shaw, J. R.
Lupski.
565
F Comprehensive analysis of polymorphic numt
insertions in human and primate populations.
G.
Dayama, S. B. Emery, J. M. Kidd, R. E. Mills.
566
W An estimate of effective population size from
individuals of various populations.
H. R. Johnston IV.
567
T Genome-wide associated variants in migraine
susceptibility: A replication study from North India.
B.
Mittal, J. Ghosh, S. Pradhan.
568
F Truncating mutations in protocadherin 15
exon 33 which encodes the cytoplasmic domain are
unlikely to be disease-causing.
C. L. Perreault-Micale,
N. Chennagiri, C. J. Kennedy, A. Frieden, D. Neitzel, N.
Faulker, S. Hallam, V. Greger.
569
W Rapid genome-wide mapping at single molecule
level using nanochannel array for structural variation
analysis and de novo assembly.
H. C. Cao, A. H. Hastie,
E. L. Lam, H. D. Dai, T. A. Anantharaman, M. X. Xiao, P.-Y.
K. Kwok.
570
T Describing translocations using HGVS sequence
variation nomenclature, suggested extensions.
P.
Taschner, J. den Dunnen.
571
F Common variation in the melanocortin 4 receptor
gene (
MC4R
)
is associated with increased food intake
and obesity in American Indians.
Y. L. Muller, R. L.
Hanson, M. Thearle, D. Hoffman, B. Gene, K. Huang, S.
Kobes, S. Votruba, J. Krakoff, W. C. Knowler, C. Bogardus,
L. J. Baier.