Page 187 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1446
W SG-ADVISER tools: De-identification,
identification and visual analytics of SG-ADVISER data
G. Erikson, P. Pham, W. Shipman, A. Torkamani.
1447
T Novel set of bioinformatics tools for performing
distributed downstream data analysis in very large
GWAS and NGS projects.
L. Eronen, T. Kanninen, P. Sevon.
1448
F A Bayesian hierarchical model to detect
differentially methylated loci from single nucleotide
resolution sequencing data.
H. Feng, K. N. Conneely,
H. Wu.
1449
W VAAST
1
VSQR: Making effective use of indels
in disease-gene searches.
S. Flygare, B. Kennedy,
C. Huff, M. Reese, L. B. Jorde, M. Yandell.
1450
T Sherlock: Comprehensive approach to
discovering gene-disease associations in GWAS
using eQTL.
C. Fuller, X. He, H. Li.
1451
F Screening genome variants for disruption
of regulatory activity with ZoomReG: Capture,
sequencing and computational identification of
regulatory variants.
T. Gaasterland, L. E. Edsall,
A. N. Dubinsky, R. Chappel, P. Ordoukhanian, S. R.
Head, The NEIGHBOR Consortium.
1452
W W4CSEQ — A web server to process enzyme-
based and sonication-based 4C-seq data.
F. Gao,
W. Lu, K. Wang.
1453
T Multi-genome analysis improves individual
genome annotation and powers disease elucidation.
G. Glusman, A. F. A. Smit, J. C. Roach, L. Rowen, D.
E. Mauldin, R. Hubley, H. Li, H. C. Cox, A. B. Stittrich,
S. Ament, J. Caballero, E. Bone, M. Brunkow, R. Gelinas,
L. Hood.
1454
F PhaseLift: A novel procedure to save time in
imputing study genotypes.
M. M. Gorski, T. W. Winkler,
K. Stark, M. Müller-Nurasyid, J. S. Ried, B. H. Weber,
I. M. Heid.
1455
W CIDRSeqSuite 4.0: A toolbox for next-
generation sequencing workflow development
S. M. L.
Griffith, D. Leary, J. D. Newcomer, K. Hetrick, M. Barnhart,
K. Roberts, B. Marosy, B. Craig, D. Mohr, M. Zilka, A.
Robinson, J. Goldstein, L. Watkins, K. Doheny.
1456
T Aneuploidy and normal cell contamination
aware approach to detect copy number variations
in cancer using next-generation sequencing data.
R. Gupta, S. Katragadda, D. Vyavahare, K. Sandhu, V.
Veeramachaneni, R. Hariharan.
1457
F Assigning KIR types from NGS short read data.
T. Hague, E. Major, A. Berces, K. Rigo, S. Juhos.
1458
W Estimating exome genotyping accuracy
by comparing to data from large scale sequencing
projects.
V. Heinrich, T. Kamphans, J. Stange, D.
Parkhomchuk, J. Hecht, T. Dickhaus, P. N. Robinson,
P. M. Krawitz.
1432
T RNA-seq reveals increased expression of
other osteogenesis imperfecta (OI)-causing genes in
diaphyseal bone from the
Col1a2
p.G610C
mouse model
of OI.
U. M. Ayturk, C. M. Jacobsen, A. G. Robling, M. L.
Warman.
1433
F SoftSearch: A tool to identify genomic
structural variations from paired-end Illumina reads.
S. Baheti, S. N. Hart, V. Sarangi, R. Moore, J. D. Bhavsar,
J. P. Kocher.
1434
W Thousand genomes and HLA typing by NGS:
Hidden treasures in public short read data.
A. Berces,
E. Major, K. Rigo, S. Juhos, T. Hague, P. Gourraud.
1435
T A consolidated genotype quality control reporting
pipeline.
J. Boston, Y. Bradford, J. Haines, W. Bush.
1436
F Variome-based identification of C ohn’s disease
predisposition.
Y. Bromberg.
1437
W Clinical exome quality assurance through
comprehensive coverage analysis improves the
utility of exome sequencing.
C. J. Buhay, Q. Wang,
M. Wang, Y. Han, H. Dinh, H. Doddapaneni, Y. Yang,
Y. Ding, M. Bainbridge, E. Boerwinkle, J. Reid, D. Muzny,
R. Gibbs.
1438
T Tumorgraft DNA-seq and RNA-seq analysis.
J. Calley, R. Higgs, P. Ebert, T. Barber.
1439
F Pathogenicity prediction of genomic variants
using the gene-level frequency of variation in
asymptomatic individuals.
C. A. Cassa, D. M. Jordan,
M. S. Lebo, S. R. Sunyaev.
1440
W Estimation of isoform-specific and allele
specific exp ession from RNA-seq data of genetically
diverse population.
K. Choi, N. Raghupathy, S. C.
Munger, D. M. Gatti, G. A. Churchill.
1441
T Web-based tools to support the clinical
genetics lab.
D. M. Church, L. Kalman, V. Ananiev,
N. Bouk, C. Chen, A. Doubintchik, M. Halavi, M. Landrum,
P. Meric, L. Phan, D. Shao, D. Slotta, J. Trow, M. Ward,
D. R. Maglott.
1442
F Project Mercury: Provenance and repeatability
through encapsulation of experiments and experiment
software.
N. A. Clarke, M. Pollard, I. Colgiu, J. Randall.
1443
W Refining quality cont ol for detection of rare
structural variants with SNP arrays: Presenting the
plumbCNV’ R package with an application to type I
diabetes.
N. J. Cooper, J. A. Todd.
1444
T The transition to clinical NGS: How well do
you know your sequencing pipeline?
D. Corsmeier,
B. Kelly, P. White.
1445
F Overcoming genetic heterogeneity in rare
Mendelian disease gene discovery: An improved network
analysis approach.
N. Dand, F. Sprengel, V. Ahlers, M. A.
Simpson, R. Schulz, R. J. Oakey, T. Schlitt.