Page 190 - ASHG 2013 Program Guide

POSTER SESSIONS
  177
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1529
F Gene expression deconvolution using single
cells.
J. Lindsay, I. Mandoiu, C. Nelson.
1530
W Implementing a high performance, reusable
consensus calling pipeline for next-generation
sequencing using globus genomics.
R. K. Madduri,
A. Rodriguez, V. Trubetskoy, L. K. Davis, P. J. Dave, N. J.
Cox, I. T. Foster.
1531
T Genome-wide structural variation analysis with
genome mapping on nanochannel arrays.
A. C. Y. Mak,
J. J. K. Wu, Y. Y. Y. Lai, K. Y. Yip, T. F. Chan, E. T. Lam, T. P.
Kwok, J. W. Li, A. K. Y. Leung, A. K. Y. Yim, M. Xiao, P. Y.
Kwok, S. M. Yiu.
1532
F GeneZip: A gzip-based C library for compact
imputed genotype storage in RAM.
C. Palmer, I. Pe’er.
1533
W VariantMaster: A novel platform to identify
causative variants from HTS data in familial, de novo
and somatic genetic disorders including cancer.
F. A.
Santoni, P. Makrythanasis, S. Nikolaev, M. Guipponi, D.
Robyr, A. Bottani, S. Antonarakis.
1534
T Accuracy of predictions of deleterious effects
on protein function of multiple dominant negative and
activating mutations in STAT3: Comparison of nine
computational methods.
M. S. Smith.
1535
F A graphical quality control tool for next-
generation exome sequencing.
J. D. Smith, S. McGee,
D. A. Nickerson.
1536
W Evaluation of imputation method for classical
HLA-DRB
using a Finnish dataset.
E. Vlachopoulou,
E. Lahtela, A. Wennerström, A. S. Havulinna, P. Salo,
M. Perola, V. Salomaa, M. S. Nieminen, J. Sinisalo,
M. L. Lokki.
1537
T An adaptive permutation procedure to estimate
the significance th eshold for the minimum p-value of
multiple permutation tests.
P. Yajnik, M. Boehnke, H. Jiang.
1538
F BDgene: A genetic database for bipolar
disorder and its overlap with schizophrenia and major
depressive disorder.
S. Chang, L. Guo, J. Wang.
1539
W PhenoVar: An innovative approach in clinical
genomics for the diagnosis of polymalformative
syndromes.
C. Buote, Y. Trakadis, JF. Therriault, H.
Larochelle, S. Lévesque.
1540
T A joint latent factor model for gene expression
data with confounders.
C. Gao, C. D. Brown, B. E.
Engelhardt.
1541
F A clinical history weighting algorithm accurately
classifies
BRCA1
and BRCA2 variants.
K. R. Bowles, B.
Morris, E. Hughes, J. Eggington, L. Esterling, B. Robinson,
A. Van Kan, B. Roa, E. Rosenthal, A. Gutin, R. Wenstrup,
D. Pruss.
1542
W GenAP: Automated analysis of genetic HTS
data for clinical diagnostic use.
M. C. Eike, T. Håndstad,
E. Nafstad, T. Hughes, T. Grünfeld, D. E. Undlien.
1514
F DeMix: Deconvolution for mixed cancer
transcriptomes using raw measured data.
W. Wang,
J. Ahn, Y. Yuan.
1515
W üRRBS-Predictor, a webtool to guide enhanced
reduced-representation bisulfite (RRBS) analysis of
genomic DNA methylation patterns.
T. R. Ward, X. Zhu,
A. E. Urban.
1516
T Analysis of archived residual newborn screening
bloodspots after whole genome amplification, using
Genformatic’s genomic medicine tool suite.
D. Weaver,
B. Cantarel, J. Reese, R. Finnell.
1517
F Visualizing multiple types of genomic
information across chromosomes with PhenoGram.
D. Wolfe, S. M. Dudek, M. D. Ritchie, S. A. Pendergrass.
1518
W Massively parallel sequencing as a tool for HLA
typing.
W. Yang, Y. Huang, J. Yang, P. C. Sham, Y. L. Lau.
1519
T PHV: A highly accurate SNP and indel variant
detector based on the Profile Hidden Markov Model
M. Zhao, W. Lee, G. T. Marth.
1520
F Resolving complex structural genomic
rearrangements using a randomized approach.
X. Zhao, S. B. Emery, J. M. Kidd, R. E. Mills.
1521
W Systematic integration of functional and
computational genomics suggests that the indel
rs79240969 in the
DNM3
gene influences both bone-
and obesity-related traits.
M. Claussnitzer, X. Chen,
D. Karasik, L. A. Cupples, D. P. Kiel, Y. H. Hsu.
1522
T The Developmental Brain Disorders Database:
A curated neurogenetics knowledge base with clinical
and research applications.
G. Mirzaa, A. J. Barkovich,
W. B. Dobyns, K. J. Millen, A. R. Paciorkowski.
1523
F Identifying putative functional variants from
GWAS by utilizing ENCODE Consortium data.
J.
Hayes, X. Xu, J. Farber, M. Setty, A. González, A. Perez,
V. Joseph, K. Offit, S. Raychaudhuri, C. Leslie, R. Klein.
1524
W Prioritization of pathways, genes and
polymorphisms for dental caries.
A. Nicolaou, M.
Shibata, S. R. Diehl.
1525
T The human Genome Clinical Annotation
Tool: Enabling clinicians with little bioinformatics
background to analyze whole exome data.
K. Wierenga,
Z. Jiang, N. F. Tsinoremas.
1526
F SeqSIMLA: An efficient simulation softwa e for
generating sequences and phenotypes for complex
disease studies.
R. H. Chung, C. C. Shih.
1527
W RegScan: A tool for rapid estimation of allele
effects on continuous traits and their combinations.
T. Haller, M. Kals, T. Esko, R. Mägi, K. Fischer.
1528
T Shortening the diagnostic odyssey: Integrating
genomic, structural, and phenotypic information to
reduce time of rare disease diagnosis.
R. Hariharan, M.
Bhat, S. Agarwal, S. Krishna, B. Panda, V. Veeramachaneni.