Page 271 - ASHG 2012 Annual Meeting Program Guide

260
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3635
F Prioritizing disease-linked variants, genes, and
pathways with an interactive whole genome analysis
pipeline for the MedSeq project.
S. Kong, K. Lee, K. B.
Hwang, J. M. Bohn, R. C. Green, I. S. Kohane.
3636
W The 1000 Genomes Project, data availability
and accessibilty.
L. Clarke, H. Zheng Bradley, R. Smith, I.
Streeter, E. Kulesha, I. Toneva, B. Vaughan, P. Flicek, 1000
Genomes Project Consortium.
3637
F Bioinformatics optimization for the detection of
low-level heteroplasmy in the mitochondrial genome in
myelodysplastic syndrome.
S. Dames, E. Duncavage, J.
Thompson, P. Shami, K. Eilbeck, M. Salama, R. Mao.
3638
W Rare variant discovery in Illumina next-
generation sequencing data: Prediction method to
differentiate true variants from false positives.
J.
Durtschi, R. L. Margraf, K. V. Voelkerding.
3639
F Memory efficient assembly of mammalian size
genome.
F. Hormozdiari, E. Eskin.
3640
W Target capture-assisted sequence assembly for
accurate genotyping of insertions and deletions.
C. J.
Kennedy, N. Chennagiri, M. A. Umbarger, G. J. Porreca, P.
C. Saunders, V. Greger.
3641
F CLC bio’s integrated framework for
identification and comparison of genomic variants
in Mendelian diseases.
M. Matvienko, A. Joecker, C.
Boysen, U. Appelt, A. Fejes, L. Kahns, S. Mønsted, J.
Grydholt, B. Knudsen, M. Bundgaard, J. Buur Sinding, H.
Handberg, A.-M. Hein, M. Nygaard Ravn, A. Joecker, M.
VÊrum, R. Forsberg.
3642
W Sensitivity and resolution of whole chromosome
mapping for detection and characterization of
structural variations in human genomes.
R. Moore.
3643
F Comparison of next-generation sequencing
alignment programs using 215 whole genomes from
the Cache County Study on Memory Health and Aging.
P. G. Ridge, Jr., J. D. Durtschi, C. D. Corcoran, R. G.
Munger, Q. O. Snell, M. J. Clement, K. V. Voelkerding, J.
S. K. Kauwe.
3644
W Continuously evolving informatics at a medium-
scale genomics center.
L. Watkins, M. Barnhart, J.
Goldstein, S. Griffith, E. Hsu, K. Roberts, D. Snyder, B. Craig,
K. Hetrick, K. Doheny, Center for Inherited Disease Research.
3645
F Genotype concordance between low-coverage
whole genome and high-coverage exome sequencing:
Results from the UK10K Study.
H. Zheng on behalf of
UK10K Consortium Cohorts Group.
3646
W Genotype calling and haplotype inference
for next-generation sequencing data incorporating
haplotype information in sequencing reads.
D. Zhi, K.
Zhang.
3647
F Exploring why whole genome sequencing
methods result in different variant calls by comparing
and integrating multiple datasets.
J. M. Zook, D.
Samarov, M. Salit.
3621
F Genotype imputation via matrix completion.
E.
C. Chi, H. Zhou, G. K. Chen, D. Ortega Del Vecchyo, K.
Lange.
3622
W Phenome-wide association study of common
PXDN variants demonstrates association with aortic
aneurysms.
J. Denny, L. Bastarache, G. Bhave, S. McCall,
M. Sample, R. Carroll, P. Peissig, A. Kho, C. McCarty, M.
Brilliant, J. Cowan, R. Chisholm, E. Larson, G. Jarvik, C.
Chute, I. Kullo, D. Roden, B. Hudson.
3623
F Rare variant association testing under low-
coverage and pooling.
E. Halperin, J. H. Sul, O. Navon,
B. Han, L. Conde, P. Bracci, J. Riby, C. Skibola, E. Eskin.
3624
W BioBin: A bioinformatics tool for biologically
inspired collapsing of rare variants.
C. B. Moore, J. R.
Wallace, A. T. Frase, S. A. Pendergrass, M. D. Ritchie.
3625
F NCBI’s ClinVar: Data archive and tools for
human variation of medical interest.
D. Maglott, S.
Chitipiralla, D. Church, M. Feolo, J. Garner, W. Jang, J.
Lee, R. Maiti, J. Ostell, L. Phan, G. Riley, W. S. Rubinstein,
D. Shao, S. Sherry, K. Sirotkin, R. Tully, R. Villamarin, M.
Ward.
3626
W Estimation of haplotype frequencies from
pooled sequence data.
D. E. Kessner, J. Novembre.
3627
F Leveraging the haplotype information in long
reads for variant calling.
A. P. Singh, Y. Shen.
3628
W A model of binding on DNA microarrays:
Understanding the combined effect of probe synthesis
failure, cross-hybridization, DNA fragmentation and
other experimental details of affymetrix arrays.
Y. A.
Jakubek, D. J. Cutler.
3629
F A recursively partitioned mixture model for
clustering time-course gene expression data.
D. C.
Koestler, C. J. Marsit, B. C. Christensen, K. T. Kelsey, E. A.
Houseman.
3630
W Probing altered gene expression profiles and
pathways that affect mitochondrial metabolism in
cancer cells and neurodegenerative diseases through
network biology approach.
A. D. Yadavalli, N. B. Sepuri.
3631
F Drug repositioning through data integration
and advanced classification tools.
D. Greco, Y. Zhao, F.
Napolitano, R. Tagliaferri, M. D’Amato, J. Kere.
3632
W Gemini: A flexible, scalable analysis framework
for medical and population genomics.
U. D. Paila, A. R.
Quinlan.
3633
F NOCALLER: A tool to account for missing
genotypes.
Z. Kronenberg, C. D. Huff, M. Yandell.
3634
W A novel model to predict splicing consequences
of intronic nucleotide substitutions in the human
genome.
A. Shibata.