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847T Combined comprehensive exome sequencing
and exon-resolution CGH for identification of germ line
alleles in inherited cancer susceptibility syndromes.
T.
Albert, H. Ji, S. Garcia, D. Newburger, D. Burgess, K.
Kingham, M. D'ascenzo, T. Richmond, R. Selzer, X. Zhang,
J. M. Bell, J. M. Ford.
848T Patterns of indel variation in 202 drug target
genes from >14,000 individuals.
N. Bing, K. C. Huang, E.
Y. Liu, J. Li, D. Fraser, J. Aponte, X. Liu, H. Zhang, A.
Slater, P. Woollard, S. L. Chissoe, J. C. Whittaker, V. E.
Mooser, M. G. Ehm, S. Zöllner, J. Novembre, Y. Li, M. R.
Nelson.
849T Whole-exome and transcriptome sequencing of
families with primary immunodeficiencies.
F. Casals, Y.
Idaghdour, I. Fernández, V. Bruat, T. de Malliard, E.
Haddad, F. Le Deist, P. Awadalla.
850T A comprehensive comparison of whole human
genome and exome sequencing technologies.
M. J.
Clark, R. Chen, H. Lam, M. O'Huallachain, K. Karczewski,
G. Euskirchen, P. Lacroute, M. Snyder.
851T Whole genome analysis of clinical samples using
Omicia's genome annotation system.
E. Coonrod, R.
Margraf, P. Ridge, S. Guthery, J. Durtschi, E. Lyon, L.
Jorde, M. Yandell, A. Russell, S. Chervitz, E. Kiruluta, M.
G. Reese, K. V. Voelkerding.
852T Comparison of library construction methods and
evaluation of whole exome capture products for next-
gen sequencing.
B. Craig, K. Hetrick, B. Marosy, J.
Romm, H. Ling, E. W. Pugh, K. F. Doheny.
853T Whole-genome medical annotation of admixed
genomes reveals ancestry-related ascertainment
biases in variants of clinical significance.
F. De La
Vega, A. Moreno-Estrada, A. Russell, J. K. Byrnes, J. M.
Kidd, S. Gravel, M. G. Reese, C. D. Bustamante.
854T Phased whole genome genetic risk in a family
quartet.
F. E. Dewey, R. Chen, S. P. Cordero, K. E.
Ormond, C. C. Caleshu, K. J. Karczewski, M. W. Carrillo,
M. T. Wheeler, J. T. Dudley, J. K. Byrnes, O. E. Cornejo, J.
W. Knowles, M. Woon, K. Sangkuhl, L. Gong, C. F. Thorn,
J. M. Hebert, E. Capriotti, S. P. David, A. Pavlovic, A.
West, J. S. West, C. D. Bustamante, M. P. Snyder, R. B.
Altman, T. E. Klein, A. J. Butte, E. A. Ashley.
855T Evaluation of mitochondrial DNA alignment data
in Illumina HiSeq whole genome sequencing for quality
control monitoring.
J. D. Durtschi, R. L. Margraf, P. G.
Ridge, K. V. Voelkerding.
856T Rapid detection of the ACMG/ACOG
recommended 23 CFTR mutations using Ion Torrent
semiconductor sequencing.
A. Elliott, J. Radecki, B.
Moghis, X. Li, A. Kammesheidt.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
857T Exome sequencing and unrelated findings in t
context of complex disease research: Ethical and
clinical implications.
E. C. Frackelton, G. J. Lyon, H.
Hakonarson, T. Jiang, R. Van Wijk, W. Wang, P. Bodily,
Xing, L. Tian, R. Robison, M. Clement, L. Yang, P. Zhan
Y. Liu, B. Moore, J. Glessner, J. Elia, F. Reimherr, W. Va
Solinge, M. Yandell, J. Wang, W. E. Johnson, Z. Wei, K.
Wang.
858T Identifying potentially life-threatening variants i
an unscreened population using whole exome
sequencing.
S. G. Gonsalves, D. Ng, J. J. Johnston, F.
Facio, S. L. Ruppert, C. Krause, J. K. Teer, J. C. Mulliki
L. G. Biesecker, NIH Intramural Sequencing Center.
859T Leveraging off-target sequence reads for more
precise inference of local ancestry and haplotypes
from exome sequence data.
Y. Hu, Y. Lo, G. Abecasis
H. Kang, 1000 Genomes Consortium.
860T Multi-pronged approach to highly accurate,
highly comprehensive complete human genomes.
S.
Jacobs, J. Baccash, C. Tian, S. Ghosh, G. Nilsen, K. P.
Pant.
861T Development of an automated sample
preparation and quality control pipeline for high-
throughput sequencing applications.
J. Lambert, A.
Barry, S. Cohen.
862T Exome sequencing identifies mutations in
PDE4D
, encoding phosphodiesterase 4D, in
acrodysostosis.
H. Lee, J. M. Graham, D. L. Rimoin, R
S. Lachman, S. F. Nelson, D. Krakow, D. H. Cohn.
863T Low DNA input optimization using Agilent
SureSelect XT library prep and whole exome selecti
for next-generation sequencing.
B. Marosy, B. Craig,
Hetrick, K. F. Doheny.
864T Whole-exome sequencing in multiplex families
with multiple sclerosis.
J. L. McCauley, A. H. Beecha
A. Hadjixenofontos, P. L. Whitehead, I. Konidari, A.
Aviram, Y. Pasco, S. L. Hauser, J. R. Oksenberg, D. J.
Hedges, J. M. Vance, J. L. Haines, M. A. Pericak-Vance
865T A nucleic acid fractionation solution for high-
throughput sequencing applications.
I. Meek, E. Won
Ho, J. Molho.
866T Multiplex exome enrichment with a new syste
from pooled barcoded libraries yields efficient varia
detection on the SOLiD
System.
G. Meredith, G. Be
M. Dudas, L. Pickle, C. Adams, W. Zhang, M. Allen, J.
Bishop, Y. Sun, G. Marnellos, M. Storm, J. Ichikawa, R.
Bennett.
867T Characterization of non-unique insertion conte
in the mouse genome using next-generation paired-
end sequencing.
N. Parrish, F. Hormozdiari, E. Eskin.