Page 173 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
T Exome sequence variants associated with
blood levels of hemostatic factors: The Cohorts for
Heart and Aging Research in Genetic Epidemiology
Consortium and the NHLBI Exome Sequencing Project.
N. Pankratz, J. Brody, M. H. Chen, B. Davis, P. Wei,
J. Reid, C. J. O’Donnell, N. L. Smith, A. C. Morrison, on
behalf of CHARGE Hemostasis Working Group and ESP
Hemostasis Working Group.
F Exome sequencing study identifies several
candidate variants associated with Kawasaki disease.
Y. Park, J. Kim, J. Lee, Korean Kawasaki Disease Genetics
W On the association of common polygenic
variation with body mass index in 7062 Han
Chinese women using low pass sequencing:
Genome-wide association, genetic risk scores,
and GCTA.
R. E. Peterson, T. B. Bigdeli, Y. Li, W.
Kretzschmar, F. Yang, H. H. Maes, A. H. Fanous,
S. Bacanu, B. P. Riley, J. Wang, S. Shi, Y. Chen,
J. Marchini, R. Mott, K. S. Kendler, B. T. Webb,
J. Flint, CONVERGE Consortium.
T Rare functional variants in complement
genes mitigate C3 inactivation and confer high risk
of advanced age-related macular degeneration.
Raychaudhuri, Y. Yu, E. C. Miller, R. M. Reynolds, P. L.
Tan, S. Gowrisankar, J. I. Goldstein, M. Triebwasser, H. E.
Anderson, J. Zerbib, D. Kavanagh, E. Souied, N. Katsanis,
M. J. Daly, J. Atkinson, J. M. Seddon.
F Exome sequencing in autism spectrum disorder.
S. Walker, R. Yuen, B. Thiruvahindrapuram, L. Lau, C.
R. Marshall, B. Fernandez, E. Fombonne, W. Roberts, L.
Zwaigenbaum, P. Szatmari, S. W. Scherer.
W Exome sequencing in schizophrenia quartets
families identifies the patte ns and rates of causal
mutations and CNVs.
D. Zhou, Z. Zhang, Y. Liu, L. He.
T Identification of low f equency variants
associated with albuminuria and kidney function
in Danes with and without diabetes through exome-
array analysis.
T. S. Ahluwalia, J. Bork-Jensen, N. Grarup,
R. Ribel-Madsen, J. M. Justesen, M. N. Harder, T. H.
Sparsø, T. O. Kilpeläinen, T. Skaaby, C. Christensen,
I. Brandslund, M. Aadahl, M. E. Jørgensen, A. Linneberg,
L. Husemoen, T. Lauritzen, T. Jørgensen, T. Hansen,
O. Pedersen.
F Exome-wide association study for the
identification of genes for primary open angle glaucoma
Z. Li, C. C. Khor, Y. Ikeda, L. Jia, L. J. Chen, M. Nakano,
R. George, T. Do, K. Abu-Amero, L. S. Tajudin, C. Kee,
O. Mineo, M. Takanori, M. Zhang, J. B. Jonas, T. N.
Chau, N. Fuse, T. Y. Wong, J. J. Liu, D. F. Garway-Heath,
C. P. Simmons, L. Vijaya, S. Kinoshita, C. P. Pang, N.
L. Wang, R. R. Allingham, M. A. Hauser, K. Tashiro, T. Aung,
E. N. Vithana.
W Rare variant association of von Willebrand
factor levels in a healthy young cohort of European
individuals using HumanExome BeadChip data.
A. B.
Ozel, K. Desch, D. Siemieniak, D. Ginsburg, J. Li.
T DES is uniquely useful in the identification of
multi-gene alterations: Oligogenic findings make up a
significant portion of p eviously undiagnosed patients.
K. Gonzalez, L. Shahmirzadi, E. Chao, S. Gandomi,
M. Parra, B. Tippin Davis, W. Zeng, S. Tang.
F Meta-analysis of rare variant associations for
lipids metabolism traits.
D. Liu, on behalf of Global
Lipids Genetics Exome Array Consortium.
W Exome-wide association study of fetal
hemoglobin levels in African Americans with sickle cell
S. Lessard, G. Lettre.
T Targeted sequencing identifies loci associated
with sarcoidosis in African Americans.
I. Adrianto,
B. Wiley, A. M. Levin, S. B. Glenn, M. C. Iannuzzi,
B. A. Rybicki, P. M. Gaffney, C. G. Montgomery.
F Exome sequencing identifies variants in families
with idiopathic scoliosis.
E. Baschal, K. Swindle,
K. Calbart, C. Wethey, K. Gowan, K. Jones, N. Miller.
W Asthma: An omics view through discordant
monozygotic twins.
R. Chen, G. I. Mias, S. Runyon, J. Li-
Pook-Than, G. Euskirchen, P. Lacroute, K. C. Nadeau, M.
T Whole genome sequencing identifies genes
and non-coding regions as modifiers of ch onic
Pseudomonas aeruginosa
infection in cystic fib osis.
J. X. Chong, M. J. Emond, T. Louie, R. L. Gibson, M. J.
Bamshad, NHLBI GO Exome Sequencing Project.
F Exome chip analysis identifies ra e variants
associated with primary open angle glaucoma.
M. D. Courtenay, R. K. Lee, D. L. Budenz, J. L. Haines,
M. A. Pericak-Vance, W. K. Scott.
W Identification of variants that confer
susceptibility to Alzheimer disease in the Amish
through exome sequencing.
L. D’Aoust, A. C.
Cummings, R. Laux, D. Fuzzell, L. Caywood, L. Reinhart-
Mercer, W. K. Scott, M. A. Pericak-Vance, J. L. Haines.
T Whole-genome sequencing of an Italian
multiple sclerosis multiplex family identifies a novel
functional variant in
F. Martinelli Boneschi,
F. Esposito, A. Osiceanu, A. Zauli, D. Cittaro, M. Sorosina,
A. Calabria, D. Lazarevic, V. Maselli, P. Brambilla,
G. Comi, E. Stupka.
F Comprehensive genomic profiling of 66
cardiometabolic phenotypes by whole genome
sequencing in 3,621 samples from the UK10K project.
J. Min, UK10K Consortium Cohorts Group.
W Functional annotation combined with
evolutionary principles facilitate whole genome
sequence analyses of complex traits: The Cohorts for
Heart and Aging Research in Genetic Epidemiology
A. C. Morrison, F. Yu, J. Lu, A. Voorman,
A. D. Johnson, J. Reid, X. Liu, D. Muzny, A. R. Folsom,
C. J. O’Donnell, B. M. Psaty, L. A. Cupples, A. Clark,
R. Gibbs, E. Boerwinkle, CHARGE Consortium.