Page 171 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
W ChIP-seq in alcoholic steatohepatitis and
normal liver tissue identifies candidate disease
mechanisms suggesting progression to cancer.
C. Wadelius, M. B. Bysani, O. Wallerman, S. Bornelöv,
K. Zatloukal, J. Komorowski.
T National Biological Sample and Data Repository
for WHO group 1 pulmonary arterial hypertension.
M. Pauciulo, A. Reponen, K. Lutz, C. Winslow, A.
Walsworth, J. Harley, M. Barnes, L. Martin, K. Marsolo,
W. C. Nichols.
F Exome sequencing and genome-wide copy
number variant mapping reveal novel associations with
sensorineural hereditary hearing loss.
R. R. Haraksingh,
F. Jahaniani Kenari, J. Rodriguez-Paris, J. Gelernter, K.
Nadeau, J. Oghalai, I. Schrijver, M. Snyder.
W Mutations in the BMP genetic network
in patients with congenital GnRH deficienc .
D. Cassatella, J. Liang, A. Dwyer, G. Sykiotis, H. Miraoui,
C. Xu, S. Santini, V. A. Hughes, X. Z. Liu, P. M. Bouloux, M.
Lang-Muritano, R. Quinton, J. G. Zhang, B. J. Stevenson,
Y. Sidis, N. Pitteloud.
T Identifying rare, non-coding DNA variants
in systemic lupus erythematosus.
S. J. White,
S. Cantsilieris, E. F. Morand.
mutation may contribute to cerebral
folate deficiency synd ome.
H. Zhu, Y. Lei, R. H. Finnell.
W Pilot whole genome sequencing of germline
DNA from 186 breast cancer cases.
P. Kraft, J. Allen,
C. Chen, B. Decker, J. Figueroa, S. Hart, S. Lindstrom,
J. Long, M. Yeager, S. Chanock, F. Couch, D. Easton,
C. Haiman, W. Zheng, D. Hunter.
T Exome sequencing in Hodgkin lymphoma
M. Rotunno, M. McMaster, L. Goldin.
F The burden of coding, non-coding and
chromosomal mutations in Hirschsprung disease.
T. Turner, K. D. Nguyen, N. Krumm, S. Chatterjee, A.
Kapoor, Q. Jiang, A. Y. Ling, M. X. Sosa, N. Gupta,
E. E. Eichler, S. Gabriel, C. Berrios, A. Chakravarti.
W Analyses of WES data in multiplex Syrian
non-syndromic oral clefts families.
J. Bailey-Wilson,
E. Holzinger, M. Parker, S. Szymczak, Q. Li, C. Cropp,
M. Nöthen, J. Hetmanski, H. Ling, E. Pugh, P. Duggal,
M. Taub, I. Ruczinski, A. Scott, M. Marazita, H. Albacha-
Hejazi, E. Mangold, T. Beaty.
T Multigenic inheritance as a cause of familial
congenital diaphragmatic hernia.
T. F. Beck, P. M.
Campeau, J. T. Lu, C. Gonzaga-Jauregi, J. R. Lupski, R. A.
Gibbs, B. H. Lee, W. Reardon, D. A. Scott, Centers for
Mendelian Genomics.
F Exome seqencing identified novel genetic
mutations in the patients with congenital vertebral
Y. Nakamura, S. Kikugawa, S. Seki, M.
Takahata, H. Terai, Y. Akaoka, M. Matsubara, F. Fujioka,
H. Inagaki, H. Kurahashi, T. Kobayashi, H. Kato.
F Genetic testing for age-related macular
degeneration in an Armenian population.
K. W. S. Small,
A. A. Abraamyan, B. Z. Zanke, P. R. Ramamoorthy.
W Associations of age-related macular
degeneration susceptibility genes to drusen.
K. Yamashiro, M. Yoshikawa, M. Miyake, H. Nakanishi,
I. Nakata, N. Gotoh, Y. Kurashige, K. Kumagai, M. Oishi,
A. Tsujikawa, R. Yamada, F. Matsuda, N. Yoshimura.
T Positive associations of
gene with high myopia in Japanese.
M. Yoshikawa, K. Yamashiro, M. Oishi, M. Miyake,
Y. Akagi-Kurashige, K. Kumagai, I. Nakata, H. Nakanishi,
A. Oishi, N. Gotoh, A. Tsujikawa, R. Yamada, F. Matsuda,
N. Yoshimura, Nagahama Study Group.
F A large clinical biorepository linked to de-identifie
electronic medical records mimics a random sample
from the general population.
D. C. Crawford, M. D. Ritchie,
L. Dumitrescu, S. A. Pendergrass, R. Goodloe, J. Boston,
E. Farber-Eger, H. H. Dilks, J. L. Haines, W. S. Bush.
W Characterization of a Hispanic population
from a biorepository linked to de-identified elect onic
medical records for genetic association and gene-
environment studies.
E. Farber-Eger, J. Boston, R.
Goodloe, S. Wilson, W. S. Bush, D. C. Crawford.
T Mitochondrial genetic effects on proliferative
diabetic retinopathy.
D. C. Samuels, M. A. Brantley, Jr.
F The association of 9p21.3 with acute myocardial
infarction in managed care populations is independent
of statin therapy.
P. Erlich, D. Carey, S. Steinhubl,
C. McCarty, D. Cross.
W Computational resources required to transform
bedside data to base-pair research.
W. Bush, J. Boston,
E. Farber-Eger, R. Goodloe, D. Crawford.
T Hirschsprung Disease Research Collaborative:
A multidisciplinary partnership to advance
Hirschsprung disease research.
C. Berrios, F. Abdullah,
P. K. Frykman, R. Kapur, J. C. Langer, A. Chakravarti.
F Risk assessment of
genetic variants on
renal function and lipid profile in multiethnic hospital
based population.
M. Udler, V. Lotay, G. Belbin, C. Wyatt,
O. Gottesman, E. Bottinger, E. E. Kenny, I. Peter.
W Towards a phenome-wide catalog of human
clinical traits impacted by genetic ancestry.
Dumitrescu, R. Goodloe, J. Boston, E. Farber-Eger, W. S.
Bush, D. C. Crawford.
T Practical implementation of polygenic risk
scores in personalized risk assessment for common
cardio-metabolic traits.
K. Fischer, K. Läll, R. Mägi, T.
Haller, L. Leitsalu, T. Esko, A. Metspalu.
F Optimization of genetic coverage and biomedically
relevant content of microarrays for genotyping in biobank
J. Schmidt, Y. Zhan, J. Gollub, Y. Lu, G. Hsiao, M.
Nitzberg, E. Schell, L. Bellon, T. Webster.