Page 268 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
257
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3549
F Capture-recapture models for evaluation of
algorithms estimating functionality of missense
mutations.
S. Hicks, S. E. Plon, M. Kimmel.
3550
W The Unified Sample Identifier: A universal
sample coding system to manage large numbers
of biological samples.
P. Hoffmann, J. E. Bolz, A.
Reinscheidt, T. F. Wienker, S. Cichon, S. Herms.
3551
F Systematic evaluations of sequencing errors
in next-generation sequencing data.
Y. Hu, Y. Liu, J.
Ferguson, I. Silverman, B. Gregory, M. Reilly, M. Li.
3552
W EGprofile: A tool for rapid profiling analysis of
epigenetic marks with ChIP-seq data.
W. Huang, L. Li.
3553
F SOAPfuse detects gene fusions from paired-end
RNA-seq data with single base resolution.
W. Jia, K.
Qiu, M. He, P. Song, Q. Zhou, F. Zhou, X. Hu, Y. Li, G. Guo.
3554
W Personalized genomics: Personalized pathway
mapping.
P. Jia, Z. Zhao.
3555
F Correcting for expression heterogeneity while
identifying regulatory hotspots.
J. Joo, J. Sul, B. Han,
E. Eskin.
3556
W GeneTalk: An expert exchange platform for
assessing rare sequence variants.
T. Kamphans, P. M.
Krawitz.
3557
F UCSC Genome Browser 2012: Distributed data,
enhanced interactivity, variant annotation integrator.
W.
J. Kent, A. Hinrichs, D. Karolchick, A. Zweig, B. Raney, H.
Clawson, M. Cline, L. Guruvadoo, K. Learned, R. Kuhn, B.
Rhead, T. Dreszer, L. Meyers, C. Li, M. Diekhans, G. Roe,
P. Fujita, D. Haussler.
3558
W Curating genomic epidemiology data in the
PAGE study.
G. Kumaraguruparan, G. Mehta, A. Q. Nato,
J. L. Ambite, S. Buyske, R. Mayani, C. Cai, J. S. Vockler, E.
Deelman, T. C. Matise.
3559
F Predicting causal variants in exome sequencing
of Mendelian disorders.
J. Kwan, M. X. Li, P. C. Sham.
3560
W Analysis of Ewing sarcoma NGS transcriptome
data highlights mechanisms of cancer progression.
M.
Laurance, J. Billaud, C. Bullitt.
3561
F Low concordance of variant calling algorithms
in exome sequencing.
G. Lyon, T. Jiang, G. Sun, W.
Wang, J. Hu, P. Bodily, L. Tian, B. Moore, H. Hakonarson,
J. Wang, M. Yandell, E. Johnson, Z. Wei, K. Wang.
3562
W DIVERGENOMEnrich: Expanding information on
a genetic variation database through automatic online
data retrieval.
W. Magalhaes, G. Souza, G. Kingman, E.
Tarazona, M. Rodrigues, Epigen-Brazil.
3563
F Fast and accurate local ancestry inference on
whole genome-scale data using conditional random
fields.
B. Maples, F. Zakharia, S. Gravel, E. Kenny, C.
Bustamante.
3535
F Improved filtering and annotation of next-
generation sequencing variants in clinical gene panels.
H. K. Chong, S. Mexal, A. M. Elliott, H. M. Lu, H. Lu, X. Li.
3536
W Discovery of a
cis
-
regulatory SNP at the
PPARG
diabetes risk locus.
M. Claussnitzer, H. Grallert,
S. N. Dankel, B. Klocke, H. Lee, S. Hauck, V. Glunk, C.
Hoffmann, M. Seifert, G. Mellgren, T. Illig, H. Hauner, H.
Laumen.
3537
F dbGENO: A web-based complex disease
curation pipeline.
D. Cook, J. Dagle, K. Ryckman, J.
Murray.
3538
W EVA: Exome Variation Analyzer, a tool for
filtering strategies in medical genomics.
S. Coutant,
C. Cabot, A. Lefebvre, M. Léonard, E. Prieur-Gaston, D.
Campion, T. Lecroq, T. Frebourg, H. Dauchel.
3539
F Random design tool for additional MIDs for
Roche sequencing platforms.
S. H. Eck, B. Grumbt, I.
Nieberle, C. Marschall, K. Hirv, H.-G. Klein.
3540
W A functional gene-based test for association
in Tourette’s syndrome and obsessive-compulsive
disorder.
P. Evans, TSA Consortium for Genetics, The
International OCD Foundation Genetics Collaborative.
3541
F Statistical considerations for decisions on
applying globin RNA reduction in blood samples for
gene expression experiments.
S. Feng, J. Dungan, S.
Gregory, C. Haynes, W. Kraus.
3542
W Biofilter 2.0 for advanced predictive model
development, testing, and hypothesis generation
using expert domain knowledge resources.
A. Frase,
J. Wallace, C. Moore, N. Katiyar, S. A. Pendergrass, M. D.
Ritchie.
3543
F Iterated correction of a diploid parental
reference sequence and its use during exome
alignments for disease gene discovery.
T. R. Gall, D. R.
Adams, C. F. Boerkoel, K. Fuentes-Fajardo, W. A. Gahl, P.
Cherukuri, M. Sincan, C. Toro, C. J. Tifft, T. C. Markello.
3544
W Kinship index variations among populations
and thresholds for familial searching.
J. Ge, B. Budowle.
3545
F Transparent, accessible, and robust functional
analysis of SNPs.
B. Giardine, R. Burhans, C. Riemer, A.
Ratan, R. Harris, G. Von Kuster, R. C. Hardison, Y. Zhang,
W. Miller, Galaxy Development Team.
3546
W ParseCNV integrative CNV association software
with quality tracking.
J. Glessner, H. Hakonarson.
3547
F Web-based interactive visual analysis of NGS
data using Galaxy.
J. Goecks, A. Nekrutenko, J. Taylor,
Galaxy Team.
3548
W Computational and informational challenges
in providing clinically-relevant genome interpretation
from high-throughput sequencing data.
R. K. Hart,
Locus Development, Inc.