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788F TNF-alpha-238A allele is associated with the risk
of hepatitis B infection.
A. Tahmasebifar, M. Mansoori, R.
Abdolmohammadi, M. Shahbazi.
789F Extensive variation in U4atac snRNA, a minor
spliceosome component that is mutated in the severe
human developmental disease MOPD I.
D. E. Symer, K.
Akagi, H. He, R. C. Dietrich, A. Robertson, W. Li, J. Li, J.
A. Westman, C. B. Burge, A. de la Chapelle, R. A.
Padgett.
790F Quantitative analysis of the human beta cell
transcriptome.
A. C. Nica, J. C. Irminger, S. E.
Antonarakis, P. A. Halban, E. T. Dermitzakis.
791F Detection and validation of MCF7 fusion
transcripts, chimeric transcripts and novel proteins
using paired end RNA-Seq with the 5500 Genetic
Analysis System.
R. Nutter, C. Barbaraciou, O. Sakarya,
A. Siddiqui.
792F The creation of BAC transgenic mice to explore
the transcriptional and behavioral effects of a putative
functional polymorphism in the human dopamine
β
-
hydroxylase gene.
D. Perdomo, T. Berg, K. Mercer, P.
Szot, C. L. Liles, D. Wenshenker, J. Cubells.
793F Implication of the ESE transcription factors
(epithelium-specific ETS-like factors) in CFTR gene
expression.
A. T. de Becdelièvre, A. Hinzpeter, N. Martin,
B. Costes, P. Fanen.
794F Analysis of HSP70B’ as a potential direct target
gene of the FOXC1 transcription factor.
Y. A. Ito, F.
Berry, M. A. Walter.
795F Host factors associated with LINE-1 and its
retrotransposition.
J. L. Goodier, L. Cheung, P. K.
Mandel, H. H. Kazazian.
796F Retrotransposition of marked SVA elements by
human L1s in cultured cells.
D. Hancks, J. Goodier, P.
Mandal, L. Cheung, H. Kazazian, Jr.
797F The transmembrane protein 126A gene (OPA7), a
mitochondrial located mRNA, encodes a mitochondrial
inner membrane protein.
S. Hanein, M. Garcia, V. Serre,
L. Fares-Taie, I. Perrault, S. Gerber, J. Cottineau, N.
Delphin, A. Schmitt, J.-M. Masse, A. Rotig, F. Devaux, A.
Munnich, J. Kaplan, J.-M. Rozet.
798F A rare deletion of
IKBKG/NEMO
promoter B in
incontinentia pigmenti patient reveals the role of
IKBKG
promoterA during embryonic development.
F.
Fusco, A. Pescatore, M. I. Conte, M. Paciolla, M. B. Lioi,
M. G. Miano, M. V. Ursini.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
Genomics
799F A challenge to genotype to phenotype
relationships: What are the implications of the
discovery that post-genomic events can influence
phenotypic expression?
C. Alvarado, B. Gottlieb, L. K.
Beitel, M. Trifiro.
800F Retrotransposition of a unique piece of LCR7
played a key role in the generation of Williams-Beur
syndrome-associated LCR during the primate
evolution.
A. Shimizu, S. Minoshima, N. Shimizu.
801F Genome-wide signatures of ‘rearrangement
hotspots’ within segmental duplications in humans.
Uddin, M. Sturge, D. D. O'Rielly, L. Peddle, P. Rahman.
802F CAGI: The critical assessment of genome
interpretation, a community experiment to evaluate
phenotype prediction.
S. E. Brenner, S. Repo, J. Moult
803F Refining susceptibility loci for chronic obstruct
pulmonary disease with lung eQTLs.
M. Lamontagne,
Couture, M. Laviolette, Y. Bossé, Merck-Laval-UBC-
Groningen Lung eQTL Consortium.
804F Stimulation effects on eQTLs in peripheral blo
leukocytes.
K. Löytynoja, E. Dukes, M. Zucchelli, J.
Vendelin, A. Parmar, E. Einarsdottir, J. Kere, D. Greco,
Saavalainen.
805F Comprehensive NextGen clinical sequencing o
the human mitochondrial genome (mtDNA) with low
level heteroplasmy analysis: 1+ years of diagnostic
experience highlights the clinical importance of
homoplasmic as well as heteroplasmic variants.
C.
Buzin, R. Boles, W. Scaringe, C. Boysen.
806F Whole-genome definitive haplotypes of SNPs a
CNVs determined by genotyping duplicated haploid
genomes.
T. Tahira, Y. Kukita, K. Yahara, M. Sonoda, K
Yamamoto, N. Wake, K. Hayashi.
807F Detailed metabolic studies identify
endophenotypes in rare obesity and overgrowth
disorders.
W. Gibson, J. Sou, S. Gyawali, A. Fam, R.
Billings, S. L. Babich, L. Musa, J. Friedman, S. Lear, S.
Jones, D. D. Weaver, K. Boycott, P. Eydoux, FORGE
Canada Consortium.
808F Functional genomic study on circulating B cell
underlying defects in bone quality in postmenopaus
Caucasian women.
V. S. Hanumanthu, L. Li, X. H. Pen
Y. Wang, R. R. Recker, P. Xiao.
809F Exome sequencing of extended late-onset
Alzheimer’s disease (LOAD) families identifies rare
variants associated with AD risk.
M. A. Kohli, A. C. N
E. R. Martin, G. W. Beecham, K. L. Hamilton, P. L.
Whitehead, J. R. Gilbert, J. L. Haines, S. Zuchner, M. A.
Pericak-Vance.