Page 232 - ASHG 2013 Program Guide

POSTER SESSIONS
  219
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2613
T Mutaome profiling and etrospective mutaome
profiling using a chived bone marrow or peripheral
blood smear in AML.
H. Liu, F. Wang, W. Teng, Y. Wang,
X. Chen, Q. Yin, M. Wang, P. Zhu.
2614
F Mutaome profiling and etrospective mutaome
profiling using a chived bone marrow or peripheral
blood smear in B-ALL.
F. Wang, H. Liu, W. Teng, Y. Wang,
X. Chen, L. Guo, M. Wang, Q. Yin, H. Yang, P. Zhu.
2615
W Molecular characterization of children with
severe autism spectrum disorders.
A. C. Tsai.
2616
T Establishment of a next-generation sequencing
protocol for genetic testing of tuberous sclerosis
complex.
P. Chen.
2617
F Magnitude of effect of reported common allele
risk from clinical genome sequencing and conventional
decision factors in therapeutic equipoise: Initial
comparison in The MedSeq Project.
C. A. MacRae, S.
Kong, J. Krier, I. Leshchiner, I. H. Lee, H. M. Maclaughlin,
W. J. Lane, D. Metterville, A. L. Hernandez, B. H. Funke,
M. Lebo, P. Kraft, I. S. Kohane, R. C. Green, H. Rehm, for
The MedSeq Project.
2618
W Translating results of the Australian and New
Zealand Registry of Advanced Glaucoma (ANZRAG)
into clinical practice.
E. Souzeau, K. P. Burdon, B. Ridge,
A. Dubowsky, J. E. Craig.
2619
T ClinVar: Improving access to clinically relevant
variants for the research and clinical genomics
communities.
M. J. Landrum, J. Lee, G. Riley, R. Tully, S.
Chitipiralla, M. Halavi, D. Hoffman, J. B. Holmes, W. Jang,
K. Katz, M. Ovetsky, A. Sethi, R. Villamarin, D. M. Church,
W. S. Rubinstein, D. R. Maglott.
2620
F Molecular diagnostic approach for limb-girdle
muscular dystrophy using both multi-gene panel
sequencing and Sanger sequencing.
H. Park, S. Lee, S.
H. Seo, S. Park, S. I. Cho, M. W. Seong, S. S. Park.
2621
W Coding mutations and variations in the 3’UTR of
CYP21A2
gene in heterozygous females associate with
hyperandrogenism.
V. Neocleous, C. Shammas, A. A. P.
Phedonos, M. Picolos, T. C. Kyriakides, M. Toumba, N.
Skordis, L. A. Phylactou.
2622
T Detection of deleted D4Z4 locus in Turkish
patients with facioscapulohumeral muscular
dystrophy.
S. Berker Karauzum, O. B. Sahan, H. Uysal.
2623
F Investigating the carrier screening potential of
the MPL c.79
1
2
T
.
A transversion, a known cause of
congenital amegakaryocytic thrombocytopenia for
individuals of AJ descent.
S. R. Birkeland, J. Sugalski,
C. Holland, J. Stoerker, J. Buis.
2624
W Screening of gene mutation in
hyperphenylalaninemia using Ion Torrent sequencing.
Y. Cao, F. Song, Y. Qu, J. Bai, Y. Jin, H. Wang.
2625
T Comparison of seven commercial DNA extraction
kits for the isolation of
Listeria monocytogenes
DNA
from whole blood samples.
M. El-Mogy, M. A. K. Abdalla,
L. Graziano, T. A. Haj-Ahmad, Y. Haj-Ahmad.
2601
T Comprehensive massive parallel DNA
sequencing strategy for the genetic diagnosis of the
neuro-cardio-facio-cutaneous syndromes.
A. Justino,
P. Dias, M. J. Pina, C. Ribeiro, S. Sousa, L. Cirnes, A. B.
Sousa, J. L. Costa, J. C. Machado.
2602
F Blood group genotyping on the TaqMan®
OpenArray®.
M. Laig, C. Colvin, M. A. Keller, E.
Grigorenko, T. Horn, J. Crowley, D. Fantin.
2603
W Clinical validation of noninvasive prenatal
screening for fetal sex chromosome aneuploidies
in maternal plasma using Direct ANalysis of
Selected Regions (DANSR™) assays.
T. Musci,
C. Struble, E. Wang, J. Hooks, J. Schmidt, K. Song,
A. Oliphant.
2604
T Comparative study for the evaluation of a new
technology for cystic fib osis screening.
M. Rongioletti,
F. Papa, C. Vaccarella, M. B. Majolini, A. Luciano, C.
Centrone, B. Minuti, V. Mazzucchi, M. Belli, I. Giotti,
C. Giuliani, F. Torricelli, G. M. Liumbruno.
2605
F Next-generation ABO genomics: The NHLBI
Exome Sequencing Project.
K. Fox, I. Stanaway, M. B.
Bamshad, P. L. Auer, A. Gordon, D. Crosslin, M. Fornage,
D. Green, S. Rich, A. P. Reiner, D. A. Nickerson, J.
Johnsen.
2606
W Genome analysis of iPS cells for regenerative
medicine.
A. Watanabe, N. Amano, M. Nakamura, A.
Fukuhara, P. Unyanee, Y. Tokunaga, M. Yamaguchi, T. Aoi,
K. Okita, K. Takahashi, S. Yamanaka.
2607
T Utility of targeted inherited disease panels for
the diagnosis of rare congenital, potentially genetic
syndromic disease.
A. Khromykh, D. Thach, M. George,
J. McCutcheon, W. Wong, R. Baveja, R. Iyer.
2608
F Towards a medical grade exome: Use of a gold
standard to evaluate and enhance exome sequencing
for diagnosis.
M. Pratt, G. Bartha, S. Luo, J. Harris, S.
Garcia, G. Chandratillake, S. Chervitz, R. Chen, M. Clark,
M. Snyder, J. West, R. Chen.
2609
W Genetic research and diagnostic using Fluidigm
integrated fluidic ci cuits.
D. Bercovich, Y. Plostky, S.
Allon-Shalev.
2610
T Whole exome sequencing is a sensitive
cost-effective method of detecting mutations in
osteogenesis imperfecta and Marfan syndrome.
A. M.
McInerney-Leo, M. Marshall, B. Gardiner, P. Coucke, B.
Loeys, J. West, M. West, B. P. Wordsworth, A. Zankl, P. J.
Leo, M. A. Brown, E. L. Duncan.
2611
F Rapid and high mutation detection rate using
Ion Torrent technology and inherited disease panel.
N.
Al Tassan, A. Almostafa, D. Khalil, J. Shinwari, R. Kattan,
A. Alissa, A. Tahir, M. Abouelhoda.
2612
W High-throughput molecular genetic analysis in
92
patients with steroid-resistant nephrotic syndrome
applying Fluidigm Access Array™ technology.
E. A.
Otto, V. Vega-Warner, M. Sampson.