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795W Cep290 function in localization of cilia proteins
resulting in phenotypic heterogeneity of CEP290-
associated disease.
Y. Zhang, Q. Zhang, C. Searby, S.
Seo, V. C. Sheffield.
796W Loss of SQSTM1 copy number in Paget’s
disease of bone.
S. Guay-Belanger, E. Gagnon, J.
Morissette, J. P. Brown, L. Michou.
797W Functional evaluation of CLEC16A: Role in type
1 diabetes.
M. Bakay, R. Pandey, L. Monaco-Shawver, J.
Glessner, C. Kim, F. Mentch, J. Bradfield, S. Grant, C.
Polychronakos, J. Orange, H. Hakonarson.
798W Genotype-function correlation of APOE gene
promoter polymorphism: In transcription control and in
type 2 diabetes susceptibility.
Y. Y. Ho, H. Geng, P. Law,
M. Ng, T. Li, L. Y. Liang, T. F. Ge, K. B. Wong, C. Liang, R.
C. Ma, W. Y. So, J. C. Chan.
799W ITGAM coding variant, rs1143679 (R77H), is
associated with systemic lupus erythematosus (SLE)
susceptibility and affects its own expression in
monocytes of SLE patients.
A. K. Maiti, P. Motghare, C.
Sandel, X. Kim-Howard, J.-M. Anaya, S. K. Nath.
Genomics
800W High-fidelity mapping of exome sequences
improves outcomes in disease studies.
T. Gaasterland,
L. Edsall, A. Patel, S. Soares, R. Thompson, A. Wu, S.
Head, P. Lee, D. E. Gaasterland, R. Ayyagari.
801W mRNA diversity of genes by alternative splicing
during neuronal differentiation of NT2 pluripotential
human embryonal carcinoma cells by retinoic acid.
T.
Isogai, A. Wakamatsu, H. Sasaki, J. Imai, S. Watanabe.
802W Global alternative splicing variation reflects
ethnical diversity.
J. W. Li, T. F. Chan.
803W Alternative exon 1 usage defines a novel human
hydroxymethylglutaryl-CoA reductase gene splice
variant.
C. Stormo, M. K. Kringen, R. M. Grimholt, J. P.
Berg, A. P. Piehler.
804W Optimized filtering of high throughput sequence
variants in clinical cases from the National Institutes of
Health Undiagnosed Diseases Program.
D. R. Adams,
M. Sincan, K. Fuentes Fajardo, C. Toro, C. F. Boerkoel, C.
J. Tifft, W. A. Gahl, T. C. Markello, NIH Intramural
Sequencing Center.
805W CIDRSeqSuite 2.0: An automated analysis
pipeline for next-generation sequencing.
M. Barnhart,
S. Griffith, K. Hetrick, J. Goldstein, B. Marosy, D. Mohr, B.
Craig, L. Watkins, Jr., K. Doheny.
806W DCAURS: A database for the identification of
disease-causing regulatory SNPs.
P. Beaulieu, D.
Sinnett.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
807W Exome sequencing identifies CCDC8 mutation
in 3-M syndrome, suggesting CCDC8 contributes in
pathway with CUL7 and OBSL1 to control human
growth.
S. Bhaskar, D. Hanson, P. G. Murray, J.
O'Sullivan, J. Urquhart, S. Daly, L. G. Biesecker, M. Ska
C. Smith, T. Cole, J. Kirk, K. Chandler, H. Kingston, D.
Donnai, P. E. Clayton, G. C. M. Black.
808W Integration of transposable elements depende
on genome landscapes.
R. Campos-Sanchez, F.
Chiaromonte, K. Makova.
809W Resources for the 1000 Genomes Project.
L.
Clarke, H. Zheng Bradley, R. Smith, E. Kulesha, I. Tone
B. Vaughan, P. Flicek, 1000 Genomes Project Consortiu
810W Expanding the annotation of the human geno
Transcripts targeted for degradation and the
noncoding genes.
G. Despacio-Reyes, M. Suner, M.
Thomas, A. Frankish, L. Wilming, J. Mudge, D.
Manthravadi, M. Kay, V. Boychenko, A. Bignell, J. Gilbe
E. Griffiths, J. Loveland, C. Steward, J. Harrow, T.
Hubbard.
811W Connecting the genome with the metabolome
Novel bioinformatic approaches for integration and
visualization.
H. K. Dharuri, P. Henneman, K. Willems v
Dijk, C. M. van Duijn, B. A. Oostra, P. A. C. 't Hoen, G.
B. van Ommen.
812W Unbiased cataloging of novel variations acros
the complete genome.
S. Ghosh, J. Ebert, G. Nilsen,
Pant, R. Drmanac.
813W Identity by descent in sequenced exomes.
A.
Gusev, J. Zhuang, I. Pe'er.
814W Using GWAs SNP arrays for quality control of
DNA sequencing data.
K. Hetrick, H. Ling, E. W. Pugh
B. D. Craig, B. A. Marosy, J. M. Romm, K. F. Doheny.
815W EpiCenter: A novel framework for accurately
identifying genome-wide changes with next-generat
sequencing data.
W. Huang, D. M. Umbach, N. V.
Jordan, A. N. Abell, G. L. Johnson, L. Li.
816W Joint genome assembly of populations, and
potential impact on personal genomes.
Z. Iqbal, G.
McVean.
817W Functional consequences of human genetic
variant covariance.
M. Kaganovich, M. Snyder.
818W Using LifeScope
software through cloud
computing to analyze targeted resequencing
enrichment data.
D. Leon.
819W Common SNPs in expression microarray prob
impact eQTL studies.
C. Liu, C. Zhang, K. Zhang, C.
Chen, E. Gamazon, X. Zhang, J. A. Badner.