Page 272 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
261
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3661
F Computational analysis of Exome-seq for
disease gene identification with eDIVA.
S. Ossowski, R.
Rahman, O. Drechsel.
3662
W The biologist’s tool for finding a needle in a
haystack: CLC bio’s platform to identify interesting de
novo and accumulative variants in the whole genome
sequence of family trios.
N. Thomson, A. Joecker, C.
Boysen, M. Matvienko, U. Appelt, A. Fejes, L. Kahns, S.
Mønsted, J. Grydholt, B. Knudsen, M. Bungaard, J. Buur
Sinding, H. Handberg, A. Hiene, M. Nygaard Ravn, A.
Joecker, M. VÊrum, R. Forsberg.
3663
F Ultra-fast clinical sequencing and annotation of
human genomes on the Illumina HiSeq 2500 platform.
S. Humphray, J. Weir, Z. Kingsbury, T. James, R. Grocock,
P. Saffrey, E. Margulies, K. Hall, D. Bentley, G. Smith, J.
Betley, C. Raczy.
3664
W Managing computing resources in large
sequencing studies: Strategies and lessons from
sequencing 2,120 Sardinian genomes.
A. Kwong,
C. Sidore, S. Sanna, H. M. Kang, G. Jun, M. Trost,
P. Anderson, T. Gliedt, R. Cusano, M. Pitzalis, M.
Zoledziewska, A. Maschio, F. Busonero, M. Lobina, M.
Balloi, B. Tarrier, C. Brennan, C. Jones, F. Cucca, G.
Abecasis, SardiNIA Project.
3665
F Clinical implementation of targeted next-
generation sequencing in a mid-sized diagnostic
laboratory.
H. Racher, L. Dimnik, P. Gordon, M. I. Innes, F.
Bernier, J. S. Parboosingh.
3666
W High-fidelity sequencing for detection of low-
frequency single nucleotide variants.
K. M. Squire, Z.
Chen, S. F. Nelson.
3667
F Species identification by polymorphisms of
mitochondrial 12S rRNA and 16S rRNA genes.
R. Li, L.
Yang.
3668
W Rapid and efficient methods for preparing
globin- and rRNA-depleted directional RNA-seq
libraries.
C. Kinross, J. Hitchen, N. Caruccio, R.
Sooknanan.
3669
F Sequencing performance of FFPE DNA in the
SureSelect
XT2
Target Enrichment System.
J. Barboza,
M. Ramirez, A. Giuffre, J. Ong, H. Ravi, M. Guadalupe, S.
Joshi, M. Visitacion, C. Pabón-Peña, S. Hunt, B. Novak, D.
Roberts, S. Happe, E. LeProust.
3670
W Torrent Variant Caller: Enabling next level of
genomic analysis.
D. Brinza, Z. Zhang, E. Tsung, A.
Joyner, C. Scafe, G. Del Mistro, F. Hyland, E. Beasley, S.
Utiramerur.
3671
F A next-gen sequencing software workflow for
cancer genomics on a desktop computer.
M. Keyser, K.
Maxfield, T. Schwei, T. Durfee, A. Pollack-Berti, D. Nash, J.
Stieren, S. Baldwin, R. Nelson, K. Dullea, J. Schroeder, P.
Pinnkas, G. Plunkett III, F. Blattner.
3648
W Next-generation biomarker screening: Using
Roche’s 454 sequencing platform to identify somatic
biomarkers.
C. Lasyone, X. Tan, A. Pond, L. Szkotnicki, V.
Venegas, K. B. Thomas, M. Berry, F. Lu.
3649
F De novo assembly of extremely long single-
molecule genome maps imaged in Irys nanochannel
arrays.
M. Requa, M. Austin, H. Dai, P. Deshpande, O.
Hampton, H. Sadowski, M. Saghbini, M. Xiao, H. Cao.
3650
W Defining best practice guidelines for the use of
NGS applications in genome diagnostics: A national
collaborative study of Dutch genome diagnostic
laboratories (LOD).
N. van der Stoep, M. M. Weiss, Q.
Waisfisz, C. Ruivenkamp, M. Nelen, J. D. H. Jongbloed, H.
Brüggenwirth, M. van Slegtenhorst, R. Lekanne dit Deprez,
O. Mook, A. Van den Wijngaard, M. Vogel, B. Van der
Zwaag, M. M. A. M. Mannens, Dutch National Board for
DNA-Diagnostics (LOD).
3651
F Genome phantasmagoria: Naming genes in
alternative loci.
E. Bruford, R. Seal, M. Wright.
3652
W Rapid preparation of targeted resequencing
libraries from DNA samples using the Access Array™
system.
C. Friedlander, X. Wang, R. Ramakrishnan.
3653
F MitoExome: A custom whole exome kit for
mitochondrial disease research and diagnosis that
captures all MitoCarta genes and the mitochondrial
genome.
X. Gai, E. A. Pierce, M. Consugar, M. Lvova, D.
C. Wallace, E. LeProust, M. J. Falk.
3654
W High-throughput solution for illumina fragment
library sample preparations.
A. Jackson, S. Verrow, M. Blair.
3655
F Comparison of two next-generation sequencing
technologies on the genomes of a trio family.
E.
Jorgenson, R. Kazma.
3656
W Single-molecule, electronic, solid-state
sequencing of M13 DNA.
J. S. Oliver, B. Bready, D.
Dederich, J. Freitas, H. Geiser, Y. He, D. Hevroni, M.
Jouzi, H.-Y. Lee, P. Mukhatira, M. Nadel, J. Sariadaridis, J.
Thompson.
3657
F Efficient genotyping of individuals using
overlapping pool sequencing and imputation.
Z. Wang,
F. Hormozdiari, W. Yang, E. Eskin.
3658
W Whole-genome sequencing analysis of SNPs
and structural variants in DNA from blood versus EBV-
transformed lymphoblasts from the same subject.
X.
Zhu, C. Laurent, M. Haney, A. E. Urban, D. F. Levinson.
3659
F Genomic capture combined with long read and
short read high-throughput sequencing for assembly
of the MHC region.
R. J. Bloom, A. L. Collins, A. E.
Byrnes, Q. Langdon, S. Happe, J. Barboza, O. Hardy, G.
Yuan, S. Ranade, P. Mieczkowski, P. F. Sullivan.
3660
W Automated pipeline for whole exome/genome
sequencing analysis on Mendelian diseases.
Y. Guo,
K. Wang.