Page 89 - ASHG 2013 Program Guide

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INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Tuesday, October 22
4:30
PM
–5:00
PM
SESSION 1 – ASHG Presidential Address: Just Another
President’s Speech (BUT It’s All About You)
Hall B2, Level 0 (Lower Level), Convention Center
Presenter
:
Jeff Murray,
ASHG 2013 President
University of Iowa
Although our society turned 65 this year it is far from
ready for retirement. Our members have led the way
as changes in knowledge, technology, policy and
education have challenged our mission over the
last seven decades. Genetics has never been more
central than it is today to the national and international
conversations surrounding science and its application
in health, law and teaching. But we must ever focus
our commitment to being a part of the solution to the
changes that confront us. Having an engaged and
active membership who create a strategic vision for
our future can ensure that we increase in relevance
and utility for ASHG in particular and for advancing the
good of society in general.
Tuesday, October 22
5:00
PM
–7:00
PM
SESSION 2 – Plenary Abstract Presentations
Hall B2, Level 0 (Lower Level), Convention Center
Moderator
:
Andrew G. Clark, Cornell Univ.
1
/5:00
Whole exome sequencing of 94 matched
brain metastases and paired primary tumors
reveals patterns of clonal evolution and selection
of driver mutations.
S. L. Carter, P. K. Brastianos, S.
Santagata, A. Taylor-Weiner, P. Horowitz, K. Ligon,
J. Seaone, E. Martinez-Saez, J. Tabernero, D. Cahill,
S. Paek, I. Dunn, B. Johnson, M. Rabin, N.U. Lin, R.
Jones, P. Hummelen, A. Stemmer-Rachamimov, D.L.
Louis, T.T. Batchelor, J. Baselga, R. Beroukhim, G.
Getz, W.C. Hahn.
2
/5:20
Pathogenic de novo SNVs, indels and
CNVs in 1,000 children with undiagnosed
developmental disorders.
M. Hurles, M. van
Kogelenberg, T. Fitzgerald, W. D. Jones, D. King, P.
Vijayarangakannan, S. Gerety, K. Morley, S. Gribble, D.
Barrett, K. Ambridge, N. Krishnappa, E. Prigmore, D.
Rajan, T. Bayzetinova, S. Al-Turki, A. Tivey, S. Clayton,
R. Miller, P. Jones, N. Carter, C. Wright, J. Barrett, D.
FitzPatrick, H. Firth, DDD Study.
3
/5:40
Chromatin loops and CNVs: The complex
spatial organization of the 16p11.2 locus.
M.
N. Loviglio, M. Leleu, N. Ghedolf, E. Migliavacca,
K. Männik, J. S. Beckmann, S. Jacquemont, J.
Rougemont, A. Reymond.
4
/6:00
Fine-mapping GWAS followed by genome
editing identifies an essential erythroid enhancer
at the HbF-associated BCL11A locus.
D. E. Bauer,
S. Lessard, S. C. Kamran, J. Xu, Y. Fujiwara, C. Lin, Z.
Shao, M. C. Canver, E. C. Smith, L. Pinello, P. J. Sabo,
J. Vierstra, R. A. Voit, G. C. Yuan, M. H. Porteus, J. A.
Stamatoyannopoulos, G. Lettre, S. H. Orkin.
5
/6:20
Translating dosage compensation to
Trisomy 21: A novel approach to Down syndrome.
J. B. Lawrence, J. Jiang, Y. Jing, C. J. Cost, J. Chiang,
H. J. Kolpa, A. M. Cotton, D. M. Carone, B. R. Carone,
D. A. Shivak, M. Byron, P. D. Gregory, C. J. Brown, F.
D. Urnov, L. L. Hall.
6
/6:40
Insights into population history from a high
coverage Neandertal genome.
D. Reich, Neandertal
Genome Consortium.