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Thursday, October 13
10:15
AM
–12:15
PM
Concurrent Platform Session B (30-39)
SESSION 35 – Cytogenetics
Room 511, Level 5, Convention Center
Moderators:
Catherine Rehder, Duke Univ., USA; Josee
Lavoie, Montreal Children’s Hosp., Canada
123
/10:15
Breakpoint signatures and complex
chromosomal ‘shattering’ from apparently balanced
germline karyotypes revealed by sequencing 82
rearrangement breakpoints.
C. Chiang, A. Heilbut, C.
A. Hanscom, C. Ernst, A. M. Lindgren, C. C. Morton,
J. F. Gusella, M. E. Talkowski.
124
/10:30
An evidence-based approach to guide
the development of content on chromosomal
microarrays and to support interpretation of
clinically significant copy number variation.
E.
Thorland, E. Rooney Riggs, S. T. South, H. M.
Kearney, E. Kaminsky, E. S. Williams, V. Horner, K.
Hanson, R. M. Kuhn, D. M. Church, S. Aradhya, D. H.
Ledbetter, C. Lese Martin, International Standards for
Cytogenomic Arrays Consortium.
125
/10:45
A large autism cohort reveals genomic
imbalances associated with many known
syndromic deletions and also those linked to
potentially novel neurodevelopmental genes.
S.
Aradhya, D. M. Riethmaier, A. Fuller, B. Boggs, G.
Richard, J. M. Meck.
126
/11:00
Sequencing chromosomal
rearrangements in autism and other developmental
disorders reveals a complex genetic architecture
across diagnostic boundaries.
M. E. Talkowski, A.
Heilbut, J. Rosenfeld, C. Hanscom, C. Chiang, C.
Enrst, A. Lindgren, S. Ahsan, A. Kirby, D. Harris, B.
Soloman, A. Gropman, D. Lucente, K. Sims, T. K.
Ohsumi, M. L. Borowsky, J. Miles, B.-L. Wu, Y. Shen,
L. G. Shaffer, M. J. Daly, C. C. Morton, J. F. Gusella.
127
/11:15
High resolution prenatal array CGH:
Improved detection, increased complexity.
A.
Breman, S. Darilek, A. Pursley, P. Ward, P. Hixon, W.
Bi, C. Shaw, P. Stankiewicz, C. Bacino, C. Eng, A.
Patel, J. R. Lupski, A. Beaudet, S. W. Cheung.
128
/11:30
Patterns of recombination along
nondisjoined and normally disjoined chromosomes
21 that exhibit multiple recombinant events on 21q.
T. Oliver, S. W. Tinker, E. Graves Allen, N. Hollis, A. E.
Locke, L. J. H. Bean, R. Chowdhury, F. Begum, M.
Marazita, V. Cheung, E. Feingold, S. L. Sherman.
129
/11:45
Somatic mosaicism of large
chromosomal anomalies in blood cells of normal
adults.
C. C. Laurie, C. A. Laurie, K. Doheny, L.
Zelnick, C. McHugh, J. Shen, X. Zheng, H. Ling, K.
Hetrick, E. Pugh, D. Mirel, C. Amos, T. Beaty, L. Bierut,
N. Caporaso, N. Freedman, E. Feingold, J. Li, C.
Haiman, J. Heit, W. Lowe, T. Manolio, M. Marazita, J.
Murray, L. Pasquale, G. Jarvik, I. Ruczinski, V. Seshan,
B. Weir, GENEVA Consortium.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
130
/12:00
Identification of single gene alterations
detected by whole-genome array comparative
genomic hybridization.
N. J. Neill, B. C. Ballif, J. B.
Ravnan, B. S. Torchia, R. A. Schultz, J. Ellison, L. G.
Shaffer.