Page 94 - ASHG 2013 Program Guide

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Wednesday, October 23
Concurrent Platform (abstract-driven)
Session A (10-18)
SESSION 10 – Which Comes First: The Sequence or
the Biology?
Hall B2, Level 0 (Lower Level), Convention Center
Maja Bucan, Univ. of Pennsylvania;
Melissa Wilson Sayres, Univ. of California, Berkeley
Annotation of pseudogenous gene segments
by massively parallel sequencing of rearranged
lymphocyte receptor loci.
R. O. Emerson, A. M.
Sherwood, H. S. Robins, C. S. Carlson, M. J. Rieder.
High throughput sequence analysis of the
TCR repertoire in glioma-associated immune
B. Grinshpun, J. Sims, Y. Feng, P.
Canoll, P. Sims, J. Bruce, Y. Shen.
Extraction and analysis of clinical traits of
multiple sclerosis using electronic medical records.
F. Davis, S. Sriram, W. S. Bush, J. C. Denny, J. L. Haines.
Haplotype of CpG-related SNPs is
associated with DNA methylation pattern.
Y. Ma,
C. E. Smith, Y. C. Lee, L. D. Parnell, C. Q. Lai,
J. M. Ordovas.
Comprehensive blood group prediction
using whole genome sequencing data from
The MedSeq Project.
W. J. Lane, I. Leshchiner,
S. Boehler, J. M. Uy, M. Aguad, R. Smeland-
Wagman, R. C. Green, H. L. Rehm, R. M. Kaufman,
L. E. Silberstein, for The MedSeq Project.
pVAAST: A new method for family-based
rare variant association testing.
C. D. Huff, H.
Hu, H. Coon, S. Guthery, S. Tavtigian, J. C. Roach,
Z. Kronenberg, J. Xing, G. Glusman, V. Garg,
B. Moore, L. E. Hood, K. S. Pollard, D. J. Galas,
D. Srivastava, M. G. Reese, L. B. Jorde, M. Yandell.
Functional genomic confounds of
transgenic integration and methods for their
J. C. Jacobsen, C. Chiang, C. Ernst,
A. J. Morton, C. Hanscom, S. J. Reid, R. G. Snell,
M. E. MacDonald, J. F. Gusella, M. E. Talkowski.
Improved exome prioritization of
disease genes through cross-species phenotype
D. Smedley, S. Köhler, A. Oellrich,
K. Wang, C. Mungall, S. E. Lewis, S. Bauer, D. Seelow,
P. Krawitz, C. Gilissen, M. Haendel, P. Robinson,
Sanger Mouse Genetics Project.
Phased allele-specific expression analysis
in integrated whole exome and mRNA sequencing
study in a family with non-random X chromosome
S. Szelinger, V. Narayanan,
J. J. Corneveaux, I. Schrauwen, A. L. Siniard,
A. A. Kurdoglu, I. Malenica, K. M. Ramsey,
M. J. Huentelman, D. W. Craig.
Wednesday, October 23
Concurrent Platform (abstract-driven)
Session A (10-18)
SESSION 11 – The Shifting Landscape of Genetic
Testing: Approaches and Success Stories
Grand Ballroom East, Level 3, Convention Center
Catherine E. Keegan, and Stephanie
Bielas, Univ. of Michigan
The utility of the traditional medical
genetics diagnostic evaluation in the context of
next-generation sequencing for undiagnosed
genetic disorders.
V. Shashi, A. McConkie-Rosell, B.
Rosell, K. Schoch, K. Vellore, M. McDonald,
Y.-H. Jiang, P.-X. Xie, A. Need, D. Goldstein.
The National Institutes of Health
Undiagnosed Diseases Program: The first four
D. R. Adams, C. F. Boerkoel, R. Godfrey,
G. Golas, C. Groden, A. Gropman, D. Landis,
T. C. Markello, M. Nehrebecky, T. Pierson, M. Sincan,
C. J. Tifft, C. Toro, C. Wahl, L. Wolfe, W. A. Gahl.
First year experience of clinical exome
sequencing for rare disease diagnosis at UCLA.
H. Lee, J. L. Deignan, N. Dorrani, F. Quintero-Rivera,
S. Kantarci, K. Das, T. Toy, S. Strom, R. Baxter,
T. Hambuch, Y. Xue, L. Li, C. Louie, D. Cherukuri,
E. Lin, B. Harry, M. Yourshaw, M. Fox, C. Palmer,
D. Wong, B. L. Fogel, W. W. Grody, E. Vilain,
S. F. Nelson.
Clinical utility of the first one thousand
clinical whole exome sequencing tests: Molecular
diagnostic rate, changes in medical management,
and the impact of incidental findings.
C. Eng, D.
Muzny, J. Reid, M. Bainbridge, A. Willis, M. Landsverk,
J. Beuten, M. Leduc, P. Ward, A. Braxton, M.
Hardison, Z. Niu, R. Person, F. Xia, M. Bekheirnia, J.
Scull, S. Wen, J. Zhang, A. Hawes, C. Buhay, Y. Ding,
M. Scheel, N. Saada, W. Liu, J. Ma, J. Chandarana, L.
Dolores-Freiberg, W. Alcaraz, H. Cui, M. Walkiewicz,
E. Boerwinkle, S. Plon, J. Lupski, A. Beaudet, R.
Gibbs, Y. Yang.
Discordant karyotype results among non-
invasive prenatal screening positive cases.
K. W.
Choy, K. Y. Kwok, E. T. Lau, M. H. Tang, A. Pursley, J.
Smith, S. W. Cheung, T. Y. Leung, A. Petal.
Genetic testing for mitochondrial disorders
in the next-generation sequencing era: Targeted
multiplex PCR gene panel or capture-based WES?
R. Bai, N. Smaoui, E. Haverfield, J. Higgs, S. F. Suchy,
D. Arjona, K. Retterer, A. Shanmugham, F. D. Kendall,
S. Parikh, A. L. Gropman, R. Haas, A. Goldstein, J.
Panzer, S. Yum, M. J. Falk, R. P. Saneto, G. M. Enns,
W. K. Chung, S. Bale, G. Richard.