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Wednesday, October 12
Concurrent Platform Session A (10-19)
SESSION 10 – Population Genetics
Room 210, Level 2, Convention Center
Cornelia M. Van Duijn, Erasmus MC,
Netherlands; Andrew G. Clark, Cornell Univ., USA
The Kaiser Permanente/UCSF Genetic
Epidemiology Research Study on Adult Health and
Aging: Developing a novel fully-automated system
to assay telomere lengths and preliminary results
on a cohort of 100,000.
K. Lapham, J. Lin, L. Fang,
M. Kvale, B. Dispensa, S. Hesselson, L. Walter, D.
Ludwig, S. Miles, S. Rowell, W. McGuire, S. Connell,
C. Zau, D. Smethurst, P. Kwok, N. Risch, C. Schaefer,
E. Blackburn.
Natural selection in the cholera endemic
Ganges River delta region.
E. Karlsson, A. Rahman,
I. Shlyakhter, J. Harris, F. Qadri, P. Sabeti, R.
Contrasting human X-linked and autosomal
variation in population-scale whole genome
A. Keinan, S. Gottipati, A. Siepel, A. G.
Clark, L. Arbiza.
The geographic structure of allele sharing
and rare variant diversity assessed from re-
sequencing of 202 genes in 15,000 individuals.
Novembre, D. Wegmann, M. Zawistowski, A. Rakshi,
S. Gopalakrishnan, D. Kessner, P. St. Jean, L. Li, M. G.
Ehm, J. Li, Y. Li, G. Abecasis, J. C. Whittaker, S. L.
Chissoe, V. E. Mooser, M. R. Nelson, S. Zöllner.
A direct characterization of human mutation.
J. X. Sun, A. Helgason, G. Masson, S. S.
Ebenesersdóttir, H. Li, S. Mallick, N. Patterson, A.
Kong, D. Reich, K. Stefansson.
Evolution and functional impact of human
coding variation from deep sequencing of 2,440
A. W. Bigham, J. A. Tennessen, T. O’Connor,
E. Kenny, S. McGee, R. Do, X. Liu, G. Jun, H. M.
Kang, D. Jordan, G. Abecasis, E. Boerwinkle, S.
Sunyaev, C. D. Bustamante, M. J. Bamshad, J. M.
Akey on behalf of NHLBI Exome Sequencing Project.
Recent admixture in an Indian population of
African ancestry and its potential in admixture
A. Basu, A. Narang, P. Kumar, V. Rawat, A.
Mukhopadhyay, D. Dash, M. Mukherjee, Indian
Genome Variation.
A sequence-based approach to
investigating balancing selection in classical
human leukocyte antigen loci.
P. G. Bronson, S. J.
Mack, H. A. Erlich, M. Slatkin.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Wednesday, October 12
Concurrent Platform Session A (10-19
SESSION 11 – Genomics I: Structural Variation
Room 517BC, Level 5, Convention Center
Heather Mefford, Univ. of Washington,
USA; Lars Feuk, Uppsala Univ., Sweden
An integrated map of genetic variation in
over 1000 human genomes.
G. McVean, 1000
Genomes Project Consortium.
Dysfunction is the normal state: Analysis
gene-disrupting variants in 1,094 human genome
D. G. MacArthur, S. Balasubramanian, A. Frankish,
Huang, L. Habegger, J. Morris, L. Jostins, C. A. Albe
J. Rosenfeld, E. Garrison, D. F. Conrad, M. A.
DePristo, X. Mu, E. Khurana, K. Walter, R. Handsake
S. B. Montgomery, J. K. Pickrell, Z. Zhang, J. C.
Barrett, J. Harrow, M. E. Hurles, M. B. Gerstein, C.
Tyler-Smith, 1000 Genomes Project Consortium.
Dual function of DNA sequences: Coding
exons function as enhancers of nearby genes.
Ahituv, E. J. Clowney, M. J. Kim, O. Agamy, S. L.
Clarke, A. M. Wenger, J. Jeong, F. Gurrieri, D. B.
Everman, C. E. Schwartz, J. L. R. Rubenstein, O. S.
Birk, G. Bejerano, S. Lomvardas, R. Y. Birnbaum.
Genome copy number variation landscap
in 68,000 humans and relevance to complex
J. T. Glessner, D. Hadley, K. Wang, J.
Bradfield, C. Kim, F. Mentch, H. Qiu, E. Frackelton,
Li, C. Hou, F. G. Otieno, K. Thomas, K. Seidler, R.
Chiavacci, J. Connolly, G. Lyon, L. Tian, B. Keating,
M. A. Sleiman, S. F. A. Grant, M. Li, H. Hakonarson.
Impact of rare copy number variation in
autism spectrum disorders: Evidence from 2,000
screened trio families.
D. Pinto, S. W. Scherer,
Autism Genome Project Consortium.
A duplication CNV that protects against
metabolic syndrome.
W. Gu, M. Lacaria, P. Saha, L
Potocki, W. Bi, J. Yan, S. Girirajan, B. Burns, K. Wal
S. Elsea, L. Chan, J. Lupski.
Identification and characterization of
structural variation breakpoints in an individual
human genome sequence.
A. W. C. Pang, J. R.
MacDonald, O. Migita, L. Feuk, S. W. Scherer.
Sequencing of isolated sperm cells for
direct haplotyping of a human genome.
E. F.
Kirkness, R. Grindberg, J. Yee-Greenbaum, C. R.
Marshall, S. W. Scherer, R. S. Lasken, J. C. Venter.