Page 189 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
F Fast and high-resolution evaluation tool of
Illumina high-throughput data considering spatial
organization of the sequencing clusters.
Y. Sato, K.
Kojima, N. Nariai, Y. Yamaguchi-Kabata, M. Nagasaki.
W Exome database.
T. Schwarzmayr, T. Wieland,
A. Schmittfull, E. Graf, T. Meitinger, T. M. Strom.
T eXtasy: Variant prioritization by genomic
data fusion.
A. Sifrim, D. Popovic, L.-C. Tranchevent,
A. Ardeshirdavani, R. Sakai, P. Konings, J. R. Vermeesch,
J. Aerts, B. de Moor, Y. Moreau.
F PHEVOR: Integration of VAAST with phenomizer
and the gene ontology for accurate disease-gene
identification using only a single a fected exome.
Singleton, L. Jorde, M. Yandell.
W Multiagent-based SNP annotation for large-
scale genetic diversity analyses: An application to
the Brazilian EPIGEN Initiative.
G. B. Soares-Souza, E.
Tarazona-Santos, A. Pereira, M. L. Barreto, B. L. Horta,
M. F. Lima-Costa, A. Horimoto, N. Esteban, F. Kehdy,
W. C. S. Magalhaes, M. R. Rodrigues, Brazilian EPIGEN
T Comprehensive network and pathway analysis
of RNA sequencing of triple negative breast cancers.
J. P. Solzak, R. Atale, B. A. Hancock, J. N. Billaud, M.
F GrabBlur: A framework to facilitate the secure
exchange of whole-exome and -genome sequencing
data sets.
B. Stade, D. Seelow, A. Franke.
W Detection of informative variants in low
coverage next-generation sequencing data as a quality
control tool to ensure sample integrity.
L. Timms, P.
Ruzanov, J. K. Miller, N. Buchner, D. Pasternack, J. D.
T Consensus genotyper for exome sequencing:
Improving the quality of exome variant genotypes.
V. Trubetskoy, R. Madduri, A. Rodriguez, J. Scharf,
P. Dave, I. Foster, L. Davis, N. Cox.
SneakPeek: Analysis workflow and
quality metric management for DNA-seq experiments.
O. Valladares, C.-F. Lin, D. M. Childress, E. Klevak,
E. T. Geller, Y.-C. Hwang, E. A. Tsai, G. D. Schellenberg,
L.-S. Wang.
W Performance of two imputation methods
on large scale data: experiences in the eMERGE
S. Verma, G. Armstrong, M. Ritchie,
D. Crawford, Y. Bradford, M. Andrade, I. Kullo, G. Tromp,
H. Kuivaniemi, L. Armstrong, G. Hayes, B. Keating,
D. Crosslin, G. Jarvik, B. Namjou, E. Bookman, R. Li,
eMERGE Network.
T FILTUS — A versatile and user-friendly
program for filtration and statistical evaluation of
variants in high-throughput sequencing projects.
M. Vigeland.
T Detection of hereditary mutations in the
mitochondrial genome for clinical diagnosis.
M. Middha, M. Klebig, E. Highsmith, E. Klee.
F Accelerating whole genome sequencing
bioinformatics for clinical application.
S. Middha,
S. Baheti, S. Hart, J. P. Kocher.
W Locus Reference Genomic record: Reference
resource for the reporting of clinically relevant
sequence variants.
J. Morales, J. A. L. MacArthur,
R. Tully, L. Gil, A. Astashyn, E. Bruford, R. Dalgleish,
E. Birney, P. Flicek, D. Maglott, F. Cunningham.
T RNA-seq alignment to individualized genomes.
S. C. Munger, N. Raghupathy, K. Choi, A. K. Simons,
D. M. Gatti, D. A. Hinerfeld, K. L. Svenson, M. P. Keller,
A. D. Attie, M. A. Hibbs, J. H. Graber, G. A. Churchill,
E. J. Chesler.
F Bioinformatics and data management of
high throughput sequencing data from prospective
cohort study at Tohoku Medical Megabank Project.
M. Nagasaki, N. Nariai, K. Kojima, Y. Yamaguchi, I. Sato,
J. Yasuda, O. Tanabe, N. Fuse, K. Kengo, R. Yamashita,
J. Yamagishi, I. Danjo, M. Matsumoto, K. Igarashi, K.
Nakayama, F. Katsuoka, S. Saito, I. Motoike, N. Ishida,
M. Shirota, M. Yamamoto.
W Transcript isoform abundance estimation
method with gapped alignment of RNA-seq data by
variational Bayesian inference.
N. Nariai, O. Hirose,
K. Kojima, M. Nagasaki.
T Detecting epistasis in NRXN1 pathway with
permutation-based variable importance measures used
in Ramdom Forests.
L. A. Neira Gonzalez, D. Tropea,
D. Morris, G. Donohoe, M. Gill, F. O’Neill, K. Kendler,
D. Walsh, B. Riley, A. Corvin, K. Nicodemus, WTCCC2.
F CIDRVar: A next-generation sequencing
database linking samples, variants, and annotations.
J. D. Newcomer, S. M. L. Griffith, E. Pugh, D. R. Leary,
J. L. Goldstein, L. Watkins, Jr., K. F. Doheny.
W Improving the accuracy of novel sequence
search in de novo human genomes with NSIT.
Pupacdi, A. Javed, M. J. Zaki, M. Ruchirawat.
T ScatterShot, a Java program for creating cluster
plots from Affymetrix and Illumina genotype data.
N. W.
Rayner, N. Robertson, M. I. McCarthy.
F Functional annotation of non-coding variants.
G. R. S. Ritchie, P. Flicek, E. Zeggini, UK10K Consortium.
W CLINGIE: A user-friendly clinical genome
interpretation engine on the web.
R. Robison, K. Wang.
T The Cincinnati Analytical Suite for Sequencing
Informatics is a tool to identify disease-causing
variants from next-generation sequencing studies.
A. M. Rupert, L. C. Kottyan, M. Kohram, M. Wagner,
M. T. Weirauch, K. M. Kaufman, J. B. Harley.