Page 193 - ASHG 2013 Program Guide

180  
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1608
W Establishing a clinical next-generation sequencing
information infrastructure.
A. Hoover, M. Kubal.
1609
T From big data to smart data: An open-source
solution for genome-scale variant data warehousing
and discovery.
M. J. Italia, B. Ruth, M. Sarmady,
J. C. Perin, D. Naegely, A. Santani, M. Dulik, N. B. Spinner,
I. D. Krantz, J. W. Pennington, P. S. White.
1610
F Integration of ENCODE datasets to epigenomics
analysis using colored De Bruijn graphs.
C. Joly
Beauparlant, J. Corbeil, A. Droit.
1611
W The Japanese reference genome in human
variation database.
A. Koike, M. Kawashima, Y. Suzuki, H.
Sawai, M. Yoshida, N. Nishida, I. Inoue, S. Tsuji, K. Tokunaga.
1612
T
IS
core
and
ALT
rate
:
Inferring human diversity using
genome-wide gene-based patterns of nucleotide
substitution, insertion and deletion.
K. Y. Lo, Y. R.
Lo, F. C. Hsiao, W. J. Lin, Y. D. Chiu, C. K. Liu, A. Yao,
C. J. Chen, C. Y. Shen, C. H. Chen.
1613
F Using ontologies to enhance integration and
analyses of ENCODE data.
V. S. Malladi, J. S. Strattan,
D. T. Erickson, E. T. Chan, E. L. Hong, G. Barber,
G. Binkley, J. Garcia, B. C. Hitz, D. Karolchik, K. Learned,
B. Lee, S. Miyasato, G. Moro, G. R. Roe, K. Rosenbloom,
L. D. Rowe, N. R. Podduturi, M. Simison, C. A. Sloan,
E. Weiler, W. J. Kent, J. M. Cherry.
1614
W A web-based framework for querying genomic
relational databases using SQL.
S. F. Saccone, P. L. Jones.
1615
T A systematic approach to large-cohort
biomarker discovery.
A. Solomon, S. Sanga, A.
Vladimirova, T. Klingler.
1616
F Beyond the noise: A case study on optimizing
computing performance in the cloud.
J. Yeager, G.
Manglik.
1617
W Automatic analysis of personal genomes
for clinical advisors.
G. E. Zinman, Clinical Genomic
Expert Team.
1618
T Mining human genetic variation with GEMINI —
A novel integrative framework for explorative analysis.
U. Paila, B. Chapman, R. Kirchner, A. Quinlan.
1619
F A generalized scalable database model for
storing and exploring genetic variations detected using
sequencing data.
N. Chennagiri, B. Breton, M. Umbarger,
P. Saunders, G. Porreca, C. Kennedy.
1620
W The European Variation Archive at the EBI.
I. Lappalainen, D. Spalding, S. Saha, L. Skipper,
J. Ameida-King, V. Kumanduri, P. Flicek, J. Paschall.
1621
T RD-Connect: An integrated platform connecting
databases, registries, biobanks and clinical
bioinformatics for rare disease research.
R. Thompson,
I. Gut, K. Bushby, E. Heslop, L. Johnston, D. Taruscio,
L. Monaco, C. Beroud, M. Hansson, H. Lochmüller, on
behalf of RD-Connect.
1595
F A fast solution to NGS strand-specific RNA
Library Prep.
C. Sumner, D. Munafo, P. Liu, L. Apone,
B. Langhorst, E. Yigit, F. Stewart, E. Dimalanta, T. Davis,
J. Bybee, L. Mazzola, D. Rodriguez, V. Panchapakesa.
1596
W Targeted sequencing for preterm birth
associated genes.
A. Uzun, I. Kurihara, B. McGonnigal,
J. F. Padbury.
1597
T Well-characterized genomes for understanding
genome sequencing performance: Integrating datasets
from multiple sequencing platforms to form highly
confident SNP and indel calls
J. M. Zook, B. Chapman,
O. Hofmann, W. Hide, D. Mittelman, J. Wang, M. Salit,
Genome in a Bottle Consortium.
1598
F Exome sequencing facilitated by a fast library
preparation method with low nanogram DNA input.
P. Liu, C. L. Hendrickson, B. Boone, B. Langhorst, L.
Apone, D. Munafo, Y. Yigit, C. Sumner, V. Panchapakesa,
D. Rodriguez, F. Stewart, T. Evans, Jr., N. Nichols, S. Levy,
E. Dimalanta, T. Davis.
1599
W Power and limitations of RNA-sequencing.
F. Staedtler, E. J. Oakeley.
1600
T Evaluation of Ion Torrent-based rapid deep
sequencing for mutation discovery and prevalence
screening in rare human myeloproliferative neoplasms
and brain tumors.
L. Wang, S. Yamaguchi, L. Lewis,
M. Holder, K. Chang, K. Walker, H. Dinh, H. Doddapaneni,
D. Muzny, R. Gibbs, C. Lau, D. Wheeler.
1601
F De novo assembly mapping with single-
molecule detection using electronic solid-state
detectors.
W. H. Heaton, B. Bready, B. Galvin, P.
Goldstein, A. Snider, J. Thompson, J. Oliver.
1602
W Comparative analysis of six splice-aware
alignment and two differential expression assessment
tools for RNA-seq data.
J. H. Kim, O. Evgrafov,
J. Knowles, K. Wang.
1603
T Next-generation sequencing PCR primer design
tool for Sanger sequencing confirmation
S. Berosik,
M. Wenz, A. Karger, P. Brzoska, F. Hu, X. You, W. Liao.
1604
F Mobile element scanning (ME-Scan) for
Alu insertions in families and populations.
D. J.
Witherspoon, W. S. Watkins, M. A. Batzer, L. B. Jorde.
1605
W Integrative analysis of metabolomics and
transcriptomics data: A unified model framework to
identify underlying system pathways.
C. Ekstrom, K.
Brink-Jensen.
1606
T Tissue-specific functional elationship networks
effectively predict replicated GWAS discoveries.
C. S.
Greene, A. K. Wong, A. Krishnan, D. S. Himmelstein, O. G.
Troyanskaya.
1607
F A semantic computing platform to enable
translational and clinical omics.
J. Hirsch, J. Carroll,
T. Loeser.