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Saturday, October 15
Concurrent Platform Session D (68-77)
(SESSION 68, continued)
Further clinical and molecular delineation
of the 15q24 microdeletion syndrome: Fifteen newly
reported patients and two atypical deletions.
Mefford, J. Rosenfeld, N. Shur, A. Slavotinek, V. Cox,
R. Hennekam, H. Firth, L. Willatt, P. Wheeler, E.
Morrow, J. Cook, R. Sullivan, A. Oh, J. Zonana, K.
Keller, M. Hannibal, S. Ball, J. Kussmann, J. Gorski, S.
Zelewski, V. Banks, W. Smith, R. Smith, L. Paull, K.
Rosenbaum, D. Amor, J. Silva, A. Lamb, E. Eichler.
Characterization of a 8q21.11
microdeletion syndrome associated with
intellectual disability and a recognizable phenotype.
M. Palomares Bralo, A. Delicado, E. Mansilla, M. L. de
Torres, E. Vallespín, L. Fernández, V. Martinez- Glez, S.
García-Miñaur, J. Nevado, F. Santos Simarro, V. L.
Ruiz-Perez, S. A. Lynch, F. H. Sharkey, A. C.
Thuresson, G. Annerén, E. F. Belligni, M. L. Martínez-
Fernández, E. Bermejo, B. Nowakowska, A.
Kutkowska-Kazmierczak, E. Bocian, E. Obersztyn, M.
L. Martínez-Frías, R. C. M. Hennekam, P. Lapunzina.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Saturday, October 15
Concurrent Platform Session D (68-77
SESSION 69 – Statistical Genetics IV: Rare Variants
Room 517BC, Level 5, Convention Center
Mingyao Li, Univ. of Pennsylvania, USA;
Peter Robinson, Inst. for Med. Genetics, Charite,
“Peeking near the peaks” for large-effec
rare variants.
A. Coventry, L. Bull-Otterson, A. Kein
X. Liu, A. Clark, T. Maxwell, J. Hixson, T. Rea, A.
Templeton, D. Muzny, L. Lewis, D. Villasana, E.
Boerwinkle, R. Gibbs, C. Sing.
A unified strategy for rare variant testin
Combined burden-based and similarity-based
E. Urrutia, M. Wu.
A powerful association test of rare
variants using a random effect model.
K. F. Chen
J. Y. Lee, C. Li.
A new Bayesian graphical model for
detecting rare variant disease associations.
Zhang, K. Wang, H. Hakonarson, S. Ghosh.
A new analytical approach to prove the
involvement of a rare variant in disease
F. Clerget-Darpoux, H. Perdry, P. Bro
B. Muller-Myhsok.
Finding rare variants in GWAS and exo
sequencing data by making use of recent comm
founder information.
W. Yang, L. Zhang, D. Ying, P.
C. Sham, Y. L. Lau.
Rare variant analysis in genetic
association studies under quantitative trait-
dependent sampling designs.
Y. E. Yilmaz, J. F.
Lawless, S. B. Bull.
Disease risk prediction to prioritize
individuals and families for whole-genome
sequencing experiments.
L. Jostins, A. P. Levine,
B. Lovat, A. P. Walker, A. W. Segal, J. C. Barrett.