Page 188 - ASHG 2013 Program Guide

POSTER SESSIONS
  175
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1474
T Monitoring, analyzing, and exploring Ion
Torrent™ NGS data with Torrent Suite™ software.
D. León.
1475
F FERRET: A user friendly tool to quickly extract
data from the 1000 Genomes Project.
S. Limou,
G. Nelson, P. An, C. Winkler.
1476
W dbNSFP v2.0: A database of human non-
synonymous SNVs and their functional predictions and
annotations.
X. Liu, X. Jian, E. Boerwinkle.
1477
T NCBI’s Conserved Domain Database as a tool
for the interpretation of human sequence variation.
F. Lu, C. J. Lanczycki, Z. Wang, G. H. Marchler, M. Gwadz,
S. H. Bryant, A. Marchler-Bauer.
1478
F H3M2: A novel algorithm for the detection
of runs of homozygosity from second generation
sequencing data.
A. Magi, L. Tattini, P. Flavia, M. Benelli,
M. Seri, G. F. Gensini, G. Romeo, T. Pippucci.
1479
W PRIOR: A bioinformatics tool for prioritization of
candidate genes.
V. Makarov, I. Ionita-Laza.
1480
T Shortcut to analysis of genomic data.
D. Maltbie,
S. Fuchs, D. Healey, A. Hopkins, J. Kaufman, L. Louie,
C. Martin, M. Penley, M. Wong.
1481
F High throughput exome coverage and capture
of clinically relevant cardiac genes.
D. Manase,
L. D’Alessandro, A. K. Manickaraj, S. Mital.
1482
W A Cloud computing-based open science
platform for analysis, presentation, and collaboration
in bioinformatics.
G. Manglik, J. Yeager.
1483
T Liftover of short reads from next-generation
sequences aligned to non-canonical references as a
step towards a diploid alignment.
T. C. Markello, T. R.
Gall, A. J. Brandt, P. J. Pemberton, D. R. Simeonov, E. D.
Flynn, W. P. Bone, A. E. Links, D. R. Adams, C. F. Boerkoel,
W. A. Gahl.
1484
F Workflows for variation detection and filterin
using NGS data from targeted resequencing, whole
genome analysis, and RNA-seq.
M. Matvienko, C.
Boysen, A. Joecker, A. Joecker, S. Monsted, R. Forsberg.
1485
W Choice of transcripts and software has a large
effect on variant annotation.
D. McCarthy, A. Kanapin,
M. Rivas, K. Gaulton, P. Humburg.
1486
T Joint GWAS analysis demonstrates increasing
similarity among disparate diseases as genomic
resolution rises from SNP to gene to pathway.
M. McGeachie, G. Clemmer, J. Lasky-Su, H. H. Chang,
B. Raby, S. Weiss.
1487
F Clinicall — A variant analysis tool for next-
generation clinical sequence data.
S. McGee, T. Kolar,
M. O. Dorschner, J. D. Smith, D. A. Nickerson.
1488
W Streaming algorithms for de Bruijn graph
statistics.
P. Melsted.
1459
T Highlander: variant filtering made easie .
R. Helaers, M. Vikkula.
1460
F Comparison of Unified Genotyper and SAM ools
as variant callers across 84 exomes.
K. Hetrick II, H.
Ling, E. Pugh, S. Griffith, B. Craig, B. Marosy, K. Doheny.
1461
W postMUT: A statistical tool for combining
predictions of missense mutation functionality using
capture-recapture methods.
S. Hicks, S. E. Plon,
M. Kimmel.
1462
T Improved access to data sets via metadata-
driven searches of experimental conditions at the
new ENCODE portal.
E. L. Hong, B. C. Hitz, E. T. Chan,
D. T. Erickson, N. R. Podduturi, G. Roe, K. Rosenbloom,
L. D. Rowe, C. A. Sloan, J. S. Strattan, G. Barber, G. A.
Binkley, J. Garcia, D. Karolchik, .K. Learned, B. Lee, S.
Miyasato, G. Moro, M. Simison, E. Weiler, W. J. Kent, J.
M. Cherry.
1463
F Network analysis on established schizophrenia
loci reveals significant genetic overlap with
autoimmune and cardiometabolic disease.
L. M.
Huckins, E. Zeggini.
1464
W SNP discovery in family sequencing datasets
using Bayesian networks.
A. Indap, G. Marth.
1465
T Mapping diagnostic test requisition data to the
human phenotype ontology.
R. James, C. Shaw.
1466
F Multiple testing correction method for linear mixed
model.
J. W. Joo, E. Kostem, E. Kang, B. Han, E. Eskin.
1467
W Filtering for compound heterozygous sequence
variants in non-consanguineous pedigrees.
T.
Kamphans, P. Sabri, A. Knaus, V. Heinrich, P. Krawitz, P.
Robinson.
1468
T Big data management in the era of genomic
medicine.
J. Kaufman, S. Fuchs, D. Healey, A. Hopkins, L.
Louie, D. Maltbie, C. Martin, M. Penley, M. Wong.
1469
F Churchill: A cloud-enabled, ultra-fast
computational approach for the discovery of human
genetic variation.
B. Kelly, J. Fitch, D. Corsmeier, D.
Newsom, P. White.
1470
W Accessing more human genetic variation with
short sequencing reads.
C. Kennedy, N. Chennagiri, B.
Breton, M. Umbarger, P. Saunders, V. Greger, C. Micale,
G. Porreca.
1471
T Genomics in clinical research on the DNASTAR
Cloud.
M. Keyser, J. Carville, T. Schwei, T. Durfee, A.
Pollack-Berti, D. Nash, J. Stieren, S. Baldwin, R. Nelson, K.
Dullea, J. Schroeder, P. Pinkas, G. Plunkett III, F. Blattner.
1472
F A general framework for estimating the relative
pathogenicity of human genetic variants.
M. Kircher,
D. M. Witten, G. M. Cooper, J. Shendure.
1473
W Gene-set test for rare variants.
J. Lee, B. Min,
S. Lee, J. Ka, T. Park, T2D-Consortium.