Page 140 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS
Saturday, October 26
9:30
AM
–11:30
AM
Concurrent Invited Session III (70-76)
SESSION 76 – Whole Genome Sequencing for Every Baby?
Where Diagnostic and Screening Applications Collide
Grand Ballroom East, Level 3, Convention Center
Moderators
:
James O’Leary, Genet. Alliance, and
Natasha Bonhomme, Genet. Alliance, Washington, DC
With the transition from research to clinical
applications of whole genome/exome sequencing
(
WG/ES) well under way, it is critical that we
focus on the future public health applications of
these technologies. What decisions (knowingly or
unknowingly) are being made now regarding the
development of these technologies that will affect
their viability for use in public health screening?
What would it mean for these technologies to enter
mainstream use and become integrated into state
newborn screening (NBS) programs? This session will
not only explore the potential of WGS in the newborn
period, but also its appropriateness. What research
has been completed or needs to be completed to
properly address the ethical, legal and social issues
surrounding this application? And finally, what are
the practical hopes and concerns that researchers,
clinicians, public health practitioners, consumers, and
policy-makers have about a potential future where
every baby receives WGS at birth?
9:30
AM
Genomic technology and newborn
screening — pros and cons.
O. A. Bodamer. Univ. of
Miami Miller Sch. of Med.
10:00
AM
WGS in newborn screening: What are we
screening for?
J. R. Botkin. Univ. of Utah.
10:30
AM
Parental interest in whole genome
sequencing of newborns.
A. Goldenberg. Case
Western Reserve Univ.
11:00
AM
Does the public want to have every
baby sequenced at birth? Public participation and
expectations of WGS.
Y. Bombard. Univ. of Toronto,
Li Ka Shing Knowledge Inst., Toronto.
Saturday, October 26
9:30
AM
–11:30
AM
Concurrent Invited Session III (70-76)
SESSION 75 – Where Do Risk Variants Act? Interrogating
Genomic Studies of Multiple Human Tissues
Room 253, Level 2, Convention Center
Moderators
:
Chris Cotsapas, Yale Sch. of Med.; Kristin
Ardlie, Broad Inst. of MIT and Harvard
We now know thousands of genetic variants that
influence a range of human traits and disease
outcomes. As most of these variants are non-coding,
the challenge is to understand what gene regulatory
processes they perturb – and in which cell types.
To do so requires comprehensive regulatory profiles
across human tissues. Several large-scale projects
are currently addressing this need, using genomic
technologies such as RNA sequencing and epigenetic
profiling to describe detailed regulatory profiles
across large cohorts of donors. The task now is to
uncover which genetic variants affect gene regulation
in each tissue, and how this results in organism-level
phenotypic changes. This session will bring together
leaders of projects including GTEx, the ENCODE, the
Roadmap Epigenome Project and ImmVar, who will
describe their ongoing efforts to create meaningful
regulatory profiles across tissues, how these may be
used to mechanistically interpret GWAS and medical
resequencing results and identify relevant cell-types
for disease.
9:30
AM
Leveraging gene expression data
to understand cell autonomous effects of
inflammatory disease variants.
P. L. De Jager.
Brigham and Women’s Hosp.
10:00
AM
Cross-tissue meta-analytic approaches
result in large gains in regulatory variant
identification.
B. Raby. Brigham and Women’s Hosp.
10:30
AM
Unique opportunities for scientific
discovery in transcriptome studies across multiple
tissues.
N. Cox. Univ. of Chicago.
11:00
AM
Regulatory effect mapping of trait-
associated variation identifies causal cell types.
J.
Stamatoyannopoulos. Univ. of Washington.