Page 196 - ASHG 2013 Program Guide

POSTER SESSIONS
  183
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1687
T Meta-analysis of FMRP mRNA target datasets
reveals highly associated mRNAs mediated by
G-quadruplex structures formed by clustered WGGA
sequences.
J. Suhl, P. Chopra, S. Warren.
1688
F Real-world performance of five long-range PCR
enzymes to amplify
,
10
kb amplicons from human
genomic DNA.
H. Jia, K. Wang.
1689
W Next-generation sequencing and novel variant
determination in a cohort of 86 familial exudative
vitreoretinopathy patients.
J. Salvo, H. Wang, K. Wang,
D. Nguyen, K. Zhang, R. Chen.
1690
T Evaluation of two commercial exome capture
kits on the ion proton.
F. Gedge, C. Chan.
1691
F A single-tube high-plex PCR approach for
targeted massively parallel sequencing applied to
FFPE tumour-derived material.
T. Nguyen-Dumont,
B. J. Pope, F. Hammet, M. C. Southey, D. J. Park.
1692
W PhenoTips: Patient phenotyping software for
clinical and research use.
M. Girdea, S. Dumitriu, M.
Fiume, S. Bowdin, K. Boycott, S. Chénier, D. Chitayat,
H. Faghfoury, M. S. Meyn, P. N. Ray, J. So, D. J.
Stavropoulos, M. Brudno.
1693
T Sequencing single human and bacterial cells
at low coverage for aneuploidy, CNV, and genotyping
applications.
E. Kamberov, T. Tesmer, S. Yerramilli, J.
Jessman, M. Carey, M. Carroll, J. Langmore.
Statistical Genetics and Genetic
Epidemiology
1694
W Cis and trans protein quantitative trait loci
identified using a high-th oughput protein assay in
297
individuals from the AddNeuroMed cohort: The
European collaboration for the discovery of novel
biomarkers for Alzheimer’s disease.
J. E. Mollon,
M. Sattlecker, S. Kiddle, C. Johnstone, K. Lunnon, P.
Proitsi, J. Powell, A. Hodges, S. K. Nelson, A. Stewart,
S. Williams, H. Soininen, I. Kloszewska, P. Mecocci, M.
Tsolaki, B. Vellas, S. Lovestone, S. Newhouse, R. Dobson.
1695
T Non-additive effects of genes in human
metabolomics.
Y. A. Tsepilov, J. S. Ried, C. Gieger, K.
Strauch, S. Shin, N. Soranzo, T. Spector, Y. S. Aulchenko.
1696
F Integrating population genetic and functional
genomic resources for accurate prediction of
deleterious protein-altering variants.
P. J. Walter, M.
Sampson, H. M. Kang.
1697
W Mixed model approaches for transcriptome
profiling of eciprocal dosage imbalances.
A.
Ragavendran, I. Blumenthal, S. Erdin, L. Klei, K. Roeder,
B. Devlin, M. E. Talkowski.
1698
T Statistical inference of eQTL sharing among
many tissues.
T. Flutre, X. Wen, J. Pritchard, M. Stephens.
1673
F A complete work flow for single cell
transcriptome analysis: From flow sorting to gene
expression analysis.
C. Mason, L. Dennis, M. Krouse,
J. Beechem, D. Mittar, E. Park, X. Y. Wang.
1674
W Streamlined methods for miRNA and strand
specific RNA library construction for the Ion orrent
PGM.
D. Munafo, L. McReynolds, B. Langhorst, C.
Sumner, P. Liu, E. Yigit, L. Apone, F. Stewart, J. Bybee,
L. Mazzola, E. Dimalanta, T. Davis.
1675
T Novel method for multiplex small-RNA library
preparation with improved performance and higher
sensitivity.
D. Rodriguez, D. Munafo, L. McReynolds, B.
Langhorst, L. Apone, P. Liu, V. Panchapakesa, C. Sumner,
E. Yigit, F. Stewart, E. Dimalanta, T. Davis.
1676
F Molecular indexing for improved RNA-seq
analysis.
M. Toloue, J. Risinger, P. Nakashe.
1677
W The Fluidigm® biobanking panel sensitively
identifies gender contamination, sample degradation
and low quality samples.
M. M. Lee, N. Y. Tuason.
1678
T SNP genotyping using Affymetrix Axiom®
genotyping solution.
M. Shapero, H. Loi, J. Law, A. Yan, D.
Nguyen, C. S. Yu, M. Purdy, R. Kurapati, M. Shirazi, L. Bellon.
1679
F Successful Illumina Infinium BeadChip high-densit
genotyping from fragmented and low concentration
samples.
J. C. Tackney, D. J. Witherspoon, L. B. Jorde.
1680
W Computational pipeline for whole genome
sequencing data analysis — An application to trio
families with 22q11 deletion.
J. Cai, K. Coleman, Z.
Zhang, B. Morrow.
1681
T Blueprint: Resources provided by the large-
scale epigenomics project.
L. Clarke, D. Richardson, S.
Wilder, P. Flicek, BLUEPRINT Consortium.
1682
F Exome sequencing identifies de novo mutations
in patients with intellectual disability and epilepsy.
J.
Halvardson, A. Zaghlool, A. C. Thuresson, L. Feuk.
1683
W An ensemble genotyping approach for whole
genome sequencing to reduce erroneous variant
calls.
I. H. Lee, J. H. Park, Y. Choe, M. B. Neu, K. Lee,
T. Hambuch, I. S. Kohane, R. C. Green, S. W. Kong, The
MedSeq Project.
1684
T Investigating the significance of genetic
proximity for HLA matched donors and recipients
in unrelated allogeneic stem cell transplantation.
A.
Madbouly, V. Paunic, M. Maiers.
1685
F Heterogeneity of global gene expression
microarray designs in detecting differentially
expressed genes.
G. Malerba, D. Noel, A. Ferrarini, L.
Xumerle, V. Mijatovic, P. F. Pignatti, M. Delledonne.
1686
W Representation of medical variation at NCBI:
ClinVar, Gene, and MedGen.
D. Maglott, M. Landrum, J. Lee,
W. Rubinstein, K. Katz, W. Jang, D. Hoffman, S. Chitipiralla,
M. Ovetsky, J. Garner, R. Tully, L. Phan, D. Shao, R. Maiti, R.
Villamarin, S. Gorelenkov, S. Sherry, D. M. Church.