Page 174 - ASHG 2013 Program Guide

POSTER SESSIONS
  161
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
1145
F Implication of
CDH1
in two familial cases of
nonsyndromic cleft lip with or without cleft palate.
L. A.
Brito, G. Yamamoto, M. Aguena, M. R. Passos-Bueno.
1146
W Rare variants and risk for asthma in 7,224
individuals from ethnically diverse populations.
C. Igartua,
R. A. Myers, C. Ober, D. L. Nicolae, Eve Consortium.
1147
T Targeted next-generation sequencing and
functional genomics in alopecia areata identifies
ULBP6
as a critical node in its genetic architecture.
L. Petukhova, E. Drill, Z. Dai, L. Bian, M. Duvic, M.
Hordinsky, D. Norris, V. Price, R. Clynes, A. M. Christiano.
1148
F Exploring the genome for the secrets of
human longevity.
E. B. van den Akker, S. J. Pitts, M. H.
Moed, S. Potluri, J. Deelen, J. J. Houwing-Duistermaat,
D. R. Cox, M. J. T. Reinders, M. Beekman, P. E. Slagboom,
Genome of The Netherlands Consortium.
1149
W Simulation of Finnish population history,
guided by empirical genetic data, to assess power
of rare variant tests in Finland.
R. Wang, V. Agarwala,
J. Flannick, D. Altshuler, J. N. Hirschhorn.
1150
T De novo and inherited retrotransposon
insertions associated with autism revealed by whole
genome sequencing.
X. Jin, A. Ewing, J. Ju, R. Yuen,
J. Wu, Y. Jiang, M. Wang, A. Shih, Y. Li, J. Wang,
S. Scherer, Z. Sun, H. Yang, H. Kazazian, J. Wang.
1151
F Exome sequencing of 55 multiply affected
coeliac families and large scale resequencing follow-
up.
V. Mistry, N. A. Bockett, M. Muddassar, K. A. Hunt,
S. L. Neuhausen, P. J. Ciclitira, V. Plagnol, D. A. van Heel.
1152
W Pathway analysis using whole exome
sequencing in Parkinson disease.
K. Nuytemans,
V. Inchausti, L. Maldonado, W. Perry, E. R. Martin,
G. W. Beecham, L. Wang, W. K. Scott, J. M. Vance.
1153
T Whole-genome sequencing in a multiplex
nuclear family of schizophrenia to identify its rare
susceptibility variants.
S. C. Yu, H. Y. Chen, S. L. Yu,
C. M. Liu, H. G. Hwu, W. J. Chen.
1154
F Contribution of rare variants in the development
of gout in Japanese males.
A. Taniguchi, C. Sekita, H.
Kaneko, W. Urano, N. Ichikawa, H. Yamanaka.
1155
W Targeted sequencing of the pericentromeric
region of chromosome 2 in Finnish constitutional delay
of growth and puberty families.
D. Cousminer, L. Dunkel,
A. Palotie, E. Widén.
1156
T Population genetics of rare variants and
complex diseases.
R. Hernandez, M. Maher, L. Uricchio,
D. Torgerson.
1157
F Exome sequencing of extended families with
autism reveals genes shared across neurodevelopmental
and neuropsychiatric disorders.
H. N. Cukier, N. D. Dueker,
S. H. Slifer, J. M. Lee, P. L. Whitehead, E. Lalanne, N. Leyva,
I. Konidari, R. C. Gentry, W. F. Hulme, D. Van Booven,
V. Mayo, N. K. Hofmann, M. A. Schmidt, E. R. Martin, J. L.
Haines, M. L. Cuccaro, J. R. Gilbert, M. A. Pericak-Vance.
1132
T Exome chip-based association analysis
identifies novel coding variants associated with
adiposity traits in Hispanic Americans: The IRAS
Family Study.
N. Palmer, C. Gao, J. Norris, J. Rotter,
L. Wagenknecht, D. Bowden, E. Speliotes, C. Langefeld.
1133
F A tool for co-segregation analysis using
whole exome sequencing data.
T. Gambin, B. Yuan,
E. Boerwinkle, J. Lupski.
1134
W Summarizing polygenic relative risks due to risk
alleles for common complex diseases for The MedSeq
Project.
S. W. Kong, C. A. MacRae, I. H. Lee, H. L. Rehm,
P. Kraft, J. Krier, J. L. Vassy, R. C. Green, I. S. Kohane.
1135
T Whole exome sequencing of families with
multiple cases of adolescent idiopathic scoliosis
implicate novel mutations in
FBN2
,
MESP2
and
SNTG1
.
A. Sasson, J. P. Dormans, F. J. Salley, C. E. Kim,
S. Deliard, J. Talarico, J. C. Perin, R. M. Chiavacci, H.
Hakonarson, S. F. A. Grant.
1136
F Identification of de novo variants contributing
to nonsyndromic cleft lip and palate.
E. J. Leslie,
K. M. Steinberg, D. C. Koboldt, C. Harris, D. E. Larson,
R. S. Fulton, G. L. Wehby, J. T. Hecht, T. H. Beaty,
A. Scott, M. L. Marazita, G. W. Weinstock, J. C. Murray.
1137
W Exome sequencing to identify de novo and
rare recessive mutations in sporadic ALS.
K. Meltz
Steinberg, D. C. Koboldt, D. E. Larson, G. E. Sanderson,
R. Pamphlett, E. R. Mardis.
1138
T Novel intellectual disability genes identified
by exome sequencing.
R. Rabionet, L. Domenech,
O. Drechsel, M. Viñas, A. Puig, M. Gehre, S. Ossowski,
I. Madrigal, M. Guitart, M. Mila, X. Estivill.
1139
F Rare coding variant association study of
inflammatory bowel diseases
M. A. Rivas, T. Green,
C. Stevens, J. H. Cho, J. D. Rioux, R. J. Xavier, M. J. Daly,
NIDDK IBD Genetics Consortium.
1140
W Exome array identifies novel loci and ra e
variants associated with age-related macular
degeneration.
Y. Yu, S. Raychaudhuri, R. Reynolds,
J. I. Goldstein, E. Souied, M. J. Daly, J. M. Seddon.
1141
T Exome sequencing in children with severe viral
respiratory infections.
S. Asgari, P. McLaren, J. Fellay.
1142
F Testing rare coding variation for an impact
on HIV-1 viral load through exome sequencing.
P. J.
McLaren, P. R. Shea, D. B. Goldstein, J. Fellay.
1143
W Exome sequencing reveals a novel putative risk
mutation for meningococcal disease.
A. Ndungu, K. S.
Elliott, T. C. Mills, A. Rautanen, P. Hutton, C. Garrard, A.
Gordon, C. J. Hinds, A. V. S. Hill, S. J. Chapman, GAinS
Investigators.
1144
T Cumulative effect of coding sequence variation
in
TLR6
and
ENG
influences risk of infectious
complications in patients with
Staphylococcus aureus
bacteremia.
W. K. Scott, D. M. Dykxhoorn, S. Guo, C. L.
Nelson, T. Rude, F. Ruffin, A. S. Allen, Q. Yan, V. G. Fowler.