Page 96 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
85
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INVITED AND PLATFORM SESSIONS
Thursday, November 8
8:00
AM
10:00
AM
Concurrent Invited Session II (21-28)
SESSION 27 – Next-Generation Sequencing in Isolated
Populations: Opportunities for Accelerated Gene
Discovery in Complex Traits
Room 134, Lower Level North, Moscone Center
Moderators
:
William K. Scott, Univ. of Miami; Jeffrey R.
O’Connell, Univ. of Maryland Baltimore
This session will present recent developments in the
application of whole-exome or whole-genome
sequencing (collectively `next-generation sequencing’
or NGS) in samples from genetically isolated
populations. Such populations have long been the
focus of gene discovery efforts for complex traits
because of the hypothesized reduction in the genetic
complexity of the trait, and the enrichment of rare
alleles. Prior genome-wide linkage efforts could detect
large genomic regions potentially harboring rare
alleles, while genome-wide association efforts could
detect smaller areas with more common alleles. NGS
allows the direct examination of both common and
rare alleles and can be analyzed in both frameworks.
Characterisics of isolated population may facilitate the
blending of NGS with these prior approaches, by deep
sequencing a small number of individuals to use as a
reference panel for imputation within pedigrees or on
the population level, by `filtering’ detected variants
against pedigree relationships (or kinship estimates) in
individuals with the trait. However, since the structure
of the population must be taken into account,
application of existing reference panels or methods for
these analyses must be done carefully. The speakers
for this session will discuss approaches to using NGS
data for gene discovery for complex traits in isolated
populations, reviewing methodologic approaches
specific to such studies and illustrating their use in
data sets drawn from such populations.
8:00
AM
Using low-pass whole genome
sequencing to create a reference population for
genome imputation in an isolated population:
Examples from the SardiNIA study.
S. Sanna.
Cittadella Univ. di Monserrato, Italy.
8:30
AM
Fine-mapping linkage of age-related
traits using whole-exome sequencing in a
midwestern Amish population sample.
W. K. Scott.
Univ. of Miami.
9:00
AM
The many-of-few: The power of genetic
isolates for discovery and function of rare variants.
J. R. O’Connell. Univ. of Maryland Baltimore.
9:30
AM
Studying rare variants in the Genetic
Research in Isolated Populations program.
C. van
Duijn. Erasmus Med. Ctr. Rotterdam, Netherlands.
Thursday, November 8
8:00
AM
10:00
AM
Concurrent Invited Session II (21-28)
SESSION 28 – Transforming Medical Student Education
in Genetics and Genomics: How Do We Improve Health
and Individualize Care through Medical School Genetic
and Genomic Curricula?
Room 130, Lower Level North, Moscone Center
Moderators
:
Joann N. Bodurtha, Johns Hopkins Univ.;
Joan Scott, NCHPEG, Lutherville, MD
This session will provide national perspectives on
integrating genetics and genomics in medical student
education. Controversies, ranging from the marketing
of curriculum change to addressing personal
genotyping, and lessons learned will be emphasized.
Challenges in 4-year integration, evaluation, ethical
issues and competing priorities will be included.
Drs. Valle, Burke, and Potocki will describe 3 different
models of curriculum development and delivery.
Drs. Demmer and Salari will provide contrasting
experiences in introducing personal genotyping by
students into the curriculum.
8:00
AM
Genes to Society—3 years of
implementation.
D. Valle. Johns Hopkins Univ.
8:30
AM
The Vermont Integrated Curriculum: The
UVM experience.
L. Burke. Univ. of Vermont Col. of
Med.
8:55
AM
Effecting change: Building a genetics
curriculum that supports the physicians of
tomorrow.
L. Potocki. Baylor Col. of Med.
9:20
AM
Lessons learned from the introduction of
personalized genotyping into a medical school
curriculum.
L. Demmer. Carolinas Medical Center.
9:40
AM
Personal genotyping in a medical school
curriculum on genomics and personalized
medicine.
K. Salari. Stanford Univ. Sch. of Med.