Page 231 - 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
2588
W New method for detecting mutation with
high sensitivity using capillary electrophoresis DNA
sequencer.
T. Yokoi, M. Yoshida, T. Anazawa.
2589
T Whole-genome prenatal sequencing and
integrative genomics: Detection of structural variation
from invasive and non-invasive approaches.
M. E.
Talkowski, V. Pillalamarri, H. Brand, I. Blumenthal, M. Z.
Ordulu, S. Pereira, J. Kitzman, J. Shendure, J. F. Gusella,
C. C. Morton.
2590
F A novel and rapid digital PCR-based method for
the identification of 22q11.2 Deletion synd ome in large
population screening.
V. Hwang, D. Maar, J. Regan, T.
Simon, F. Tassone.
2591
W Detection of 22q11.2 deletion syndrome
in Colombian patients with isolated congenital
cardiopathy by MLPA.
T. Pineda, O. Moreno, I. Zarante.
2592
T A comparison of CNV endpoint accuracy
between CytoScan® Dx assay and next-generation
sequencing.
A. Roter, B. Eynon, S. Close, K. Kwiatkowski,
D. Ballinger, S. Yang, R. Duttagupta, C. Chen, K. Suyenga,
A. Singh, T. Chen, M. Chadha, E. Fung.
2593
F Accurate detection of small and large copy
number events from targeted next-generation sequence
data.
K. B. Jacobs, J. P. Paul, G. Nilsen, M. Mikhaelian, R.
Hart, M. Johnson, S. E. Lincoln, J. M. Sorenson.
2594
W Assessing common maternal copy number
variation during cfDNA analysis for non-invasive
prenatal testing using Digital Analysis of Selected
Regions (DANSR™) assays.
C. Struble, E. Wang, J.
Schmidt, A. Batey, T. Musci, K. Song, A. Oliphant.
2595
T Generating high confidence next-generation
sequencing variant calls for clinical diagnostic use.
P.
J. B. Sabatini, L. Lau, M. Eliou, J. Orr, P. Ray, T. Stockley.
2596
F Validation and implementation of a 19-gene
2
nd tier Rett/Angelman syndrome next-generation
sequencing panel.
J. R. Jones, M. J. Basehore, S.
McGee, K. Kubiak, J. Butler, K. King, J. A. Lee, M. J. Friez.
2597
W High-throughput screening for
SMN1
copy
number loss by next-generation sequencing.
E.
Boyden, G. Porreca, M. Umbarger.
2598
T Establishing performance specifications for
clinical whole exome sequencing.
M. O. Dorschner, S.
J. Anover-Sombke, J. Gasper, S. McGee, T. Shaffer, K.
Patterson, J. D. Smith, G. P. Jarvik, D. A. Nickerson.
2599
F Development and validation of a synthetic,
single-reagent, positive control for comprehensive
high-throughput carrier screening.
A. M. Fedick, C.
Jalas, N. R. Treff.
2600
W Limited clinical utility of whole exome
sequencing in the diagnosis of hereditary neuropathies.
O. Jarinova, J. Warman, J. Schwartzentruber, C. Goldsmith,
N. Carson, E. McCready, G. Yoon, S. Baker, A. M. Innes, C.
Beaulieu, A. Smith, T. Hartley, K. Boycott.
2575
F Clinical usefulness of copy number variants
detected by affymetrix high-resolution genome-wide
array.
E. Cho, E. Lee, J. Jang, H. Kim.
2576
W Performance analysis of saliva generated
genomic DNA used for genotyping on the Affymetrix
DMET Plus array as part of the Coriell Personalized
Medicine Collaborative.
N. P. Gerry, N. C. Weiner, D. E.
Lynch, L. A. Swanson.
2577
T Improved diagnosis of mitochondrial disorders
by next-generation sequencing approach.
V. W. Zhang,
J. Wang, Y. Feng, X. Tian, L.-J. Wong.
2578
F Detection of disease-causing mutations in
the Ashkenazi Jewish population using a biofilm
microarray.
M. Procter, C. Smith, R. Mao.
2579
W Comprehensive mutation analysis by next-
generation sequencing in patients with neonatal
intrahepatic cholestasis.
T. Togawa, T. Sugiura, K. Ito,
T. Endo, S. Saitoh.
2580
T CIGMA (Clinical Impact of Genetic Mutational
Analysis): A new approach to mutational classification
in large-scale clinical genetic testing.
C. Turnbull, R.
Sultana, S. Mahamdallie, E. Ruark, H. Hanson, N. Rahman.
2581
F A comprehensive genetic analysis of Japanese
patients with Charcot-Marie-Tooth disease using a
next-generation sequencing system.
A. Hashiguchi,
A. Yoshimura, S. Nozuma, Y. Higuchi, Y. Sakiyama, T.
Nakamura, Y. Okamoto, E. Matsuura, H. Takashima.
2582
W Multiplex-PCR coupled to next-generation
sequencing and SNP array technologies greatly improve
molecular diagnosis of Usher syndrome.
C. Bonnet, S.
Chantot-Bastereaud, I. Sliesoraityte, A. Fakin, F. Testa, L.
Martorell Sampol, S. Gherbi, S. Dad, S. Marlin, S. Kohl, D.
Zobor, S. Mohand-Saïd, F. Simonelli, S. Banfi, J. Rodriguez
Jorge J., L. Birk Moller, A. Kurtenbach, M. Hawlina, A.
Aurricchio, J. A. Sahel, I. Audo, E. Zrenner, C. Petit.
2583
T Panel diagnostics for deafness disorders using
next-generation sequencing.
I. Vogl, S. H. Eck, S. Datter,
S. Küçük, D. Wahl, I. Rost, S. Chahrokh-Zadeh.
2584
F Next-generation sequencing in the molecular
diagnostics of rare diseases using a gene panel
approach.
S. H. Eck, I. Vogl, S. Datter, S. Kuecuek, W.
Rupprecht, B. Busse, J. Hoefele, S. Chahrokh-Zadeh, C.
Marschall, K. Mayer, I. Rost, HG. Klein.
2585
W Sequencing
CFTR
in a clinical diagnostic
setting using the ion torrent personal genome
machine.
L. Y. Lau, M. Eliou, J. Orr, C. R. Marshall, T. L.
Stockley, S. W. Scherer, P. N. Ray.
2586
T Reproducibility of fetal fraction estimates in
maternal plasma using the Harmony™ prenatal test.
E.
Wang, C. Struble, T. Musci, A. Batey, J. Schmidt, K. Song,
A. Oliphant.
2587
F Fast STR-PCR protocol enabling rapid and high
quality chimerism analysis after allo-HSCT.
W. Teng, H.
Liu, F. Wang, Y. Wang, X. Chen, J. Fan, P. Zhu.