Page 192 - ASHG 2013 Program Guide

POSTER SESSIONS
  179
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1583
F Identifying Mendelian disease genes: An
analysis tool of PhenoDB.
N. Sobreira, F. Schiettecatte,
D. Valle, A. Hamosh.
1584
W The European genome-phenome archive.
V. Kumanduri, A. Datta, J. Almeida-King, L. Clarke,
I. Lappalainen, P. Flicek, J. Paschall.
1585
T The medical exome project: From concept to
implementation.
A. Santani, S. Gowrishankar, C. da Silva,
D. Mandelkar, A. Sasson, M. Sarmady, R. Shakhbatyan,
S. Tinker, D. Church, B. Funke, M. Hegde.
1586
F Accurate identification of allele imbalances in
samples with limited genotype information available.
M. L. Buchkovich, K. E. Eklund, Q. Duan, Y. Li, K. L.
Mohlke, T. S. Furey.
1587
W Scalable variant identification and imputation
across large multigenerational pedigrees from high-
throughput sequencing data by joint Bayesian variant
calling.
F. M. De La Vega, S. Malakshah, R. Littin, L. Trigg,
A. Jackson, D. Ware, J. G. Cleary.
1588
T Advantages of single-molecule, solid-state
nanodetectors for genome mapping.
B. Galvin, B.
Bready, D. Dederich, A. Forget, J. Frietas, H. Geiser, P.
Goldstein, D. Goryunov, H. Heaton, D. Hevroni, M. Jouzi,
M. Kaiser, H. Lee, T. Leffert, D. Lloyd, S. Marappan,
E. Olejnik, J. Oliver, L. Seward, A. Snider, J. Tang, J.
Thompson, M. Zhang.
1589
F Validation of the second and the third
generation sequencers by de novo assembling using
AT rich, repetitive, homopolymeric human BAC DNA.
T. Hirano, Y. Terabayashi, K. Teruya, M. Teruya, M. Shimoji,
H. Tamotsu, A. Arasaki, K. Nakano, A. Shiroma, K. Satou,
Y. Yamaoka, A. Sekine.
1590
W Developing 400-base sequencing for the Ion
PGM® System.
A. I. Kraltcheva, D. J. Mazur, G. Luo,
X. Peng, T. L. Lincecum, G. Lowman, M. A. Landes,
B. Strohecker, K. N. Aguinaldo, T. Nikiforov, E. Tozer,
J. J. Shirley, P. Vander Horn.
1591
T GenomeBrowse: Visual analytics and false-positive
discovery for DNA and RNA-seq NGS data.
G. Linse
Peterson, G. Rudy, S. Gardner, M. Thiesen, A. Laughbaum.
1592
F Improving the robustness of personal
genome variant discovery: The impact of technical
replicates, sample source and analysis method.
D. Mittelman, A. Del Duca, R. M. Iwasiow, N. Leibovich,
J. Wang, M. Tayeb.
1593
W Genome in a Bottle Consortium: Update on
a public-private-academic consortium developing
a standards infrastructure for human genome
sequencing.
S. A. Munro, J. Zook, M. Salit, Genome in
a Bottle Consortium.
1594
T Change can be good: Updating the human
reference genome assembly.
V. A. Schneider, P. Flicek,
T. Graves, T. Hubbard, D. M. Church, for Genome
Reference Consortium.
1570
T Enlight: A web-based tool for integrating GWAS
results with biological annotations.
Y. Guo, D. Conti,
K. Wang.
1571
F RNA-seq analysis of alternative splicing events in
Drosophila melanogaster
.
Y. Li, X. Rao, C. Amos, B. Liu.
1572
W Modeling complex autoimmune disease
susceptibility in the skin with regulatory and genetic-
genomic interface networks.
J. C. Chen, A. M.
Christiano.
1573
T Network communicability: An effective
alternative metric for genome analysis.
C. Shaw, I. M.
Campbell.
1574
F Quantifying gene expression and allele specific
expression simultaneously using personal human
genomes.
N. Raghupathy, K. Choi, S. C. Munger, G. A.
Churchill.
1575
W A comprehensive resequence-analysis of 250kb
region of 8q24.21 in men of African ancestry.
C. C.
Chung, A. W. Hsing, E. Yeboah, R. Biritwum, Y. Tettey, A.
Adjei, M. B. Cook, A. De Marzo, G. Netto, J. F. Boland, M.
Yeager, S. J. Chanock.
1576
T Integrating multiple reference sequences,
known variation and de novo assembly for personal
genome inference.
A. T. Dilthey, Z. Iqbal, C. Cox, M. R.
Nelson, G. McVean.
1577
F Genotyping of exotic structural variants
using BWA and Pindel in whole genome and exome
sequence data.
D. S. Hanna, J. D. Smith, D. A. Nickerson,
J. M. Swanson, E. M. Faust.
1578
W High-coverage whole genome sequencing of
thirty Brazilian admixed individuals.
M. Machado, R.
Moreira, E. Tarazona-Santos, A. C. Pereira, M. L. Barreto,
B. L. Horta, M. F. Lima-Costa, A. Horimoto, N. Esteban,
F. Kehdy, M. Rodrigues, W. C. S. Magalhaes, Brazilian
Epigen Consortium.
1579
T Multi-platform and cross-methodological
reproducibility of transcriptome profiling by RNA
seq in the ABRF Next-Generation Sequencing
Study.
C. E. Mason, S. Li, S. W. Tighe, C. M. Nicolet,
D. Grove, S. Levy, W. Farmerie, A. Viale, C. Wright,
P. A. Schweitzer, Y. Gao, D. Kim, J. Boland, B. Hicks,
R. Kim, S. Chhangawala, N. Jafari, N. Raghavachari,
C. Hendrickson, D. Roberson, J. Rosenfeld, T. Smith,
J. Underwood, M. Wang, P. Zumbo, D. Baldwin, G. Grills,
ABRF-NGS Consortium.
1580
F Identifying genomic copy number alteration and
loss of heterozygosity in next-generation sequence
data.
S. Rozen, J. R. McPherson, Y. Wu, P. Tan.
1581
W Reducing platform bias in next-generation
sequencing.
L. Saag, U. Gerst Talas, M. Mitt, R. Villems,
M. Metspalu.
1582
T Customized and personalized next-generation
genomics.
A. N. Singh.