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Friday, October 14
10:30
AM
–12:30
PM
Concurrent Invited Session III (45-50)
SESSION 48 – Individual Resequencing for Complex
Trait Genetics
Room 210, Level 2, Convention Center
Moderators:
Benjamin M. Neale, Massachusetts Gen.
Hosp., USA; Mark J. Daly, Broad Inst., Cambridge,
MA, USA
This session will present an analysis of individual level
sequencing data for a range of complex traits. We will
encompass novel analytic methods, insights into the
logistical and quality control challenges from a variety
of disease-motivated sequencing projects and
emerging themes of the genetic architecture of
common complex traits. Specifically, we will present
data from regional, whole exome, and whole genome
studies on metabolic, immunological, and psychiatric
phenotypes. We anticipate that this session will not
only provide an extensive description of how best to
process next-generation sequence data, but also will
explain the state of the art in analytic tools and
methods for next-generation sequencing. These
projects will enable the most comprehensive
perspective on the role of the full range of variation
types, including SNPs, small insertion and deletion
events, and copy number variation. Furthermore, we
will provide the most up to date perspective on how
large an influence rare variation (i.e. <1% in the
general population) has on these complex phenotypes.
10:30
AM
Introduction.
B. M. Neale. Massachusetts
Gen. Hosp., USA.
10:35
AM
Next-generation sequencing in seven
common diseases.
P. Donnelly. Wellcome Trust Ctr.
for Human Genet., Oxford, U.K.
10:58
AM
Large-scale sequencing of schizophrenia
and bipolar disorder.
S. M. Purcell. Massachusetts
Gen. Hosp., USA.
11:21
AM
Next-generation sequencing to resolve
complex genetic architectures.
J. Barrett. Wellcome
Trust Sanger Inst., Hinxton, U.K.
11:44
AM
Next-generation sequencing of multiple
sclerosis.
C. Cotsapas. Yale Univ., USA.
12:07
PM
Sequencing analysis of quantitative
traits.
G. Abecasis. Univ. of Michigan, USA.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Friday, October 14
10:30
AM
–12:30
PM
Concurrent Invited Session III (45-50)
SESSION 49 – International Policies Regarding the
Retention and Use of Residual Dried Blood Spot
Specimens after Newborn Screening
Room 520, Level 5, Convention Center
Moderator:
Michele Lloyd-Puryear, HHS, Rockville,
MD, USA
Since the newborn screening community first
published guidance regarding the retention, storage
and use of residual dried blood spots in 1996,
noticeable improvements in policy development hav
occurred. In the United States of America’s State
newborn screening programs, there are currently tw
distinct practices regarding the storage and use of
residual newborn screening specimens: 1) short-ter
storage (<3 years), primarily for program quality
assurance and test improvement; and 2) long-term
storage (>18 years), which allows for the above
program needs and additionally for public health
research. This session will report on the
recommendations from the Secretary’s Advisory
Committee on Heritable Disorders in Newborns and
Children as well as provide international perspective
on the use and storage of newborn screening residu
blood specimens and policies to protect families an
govern the activities for these specimens.
10:30
AM
Introduction.
M. Lloyd-Puryear. HHS,
Rockville, MD, USA.
10:35
AM
Recommendations from the Secretary’
Advisory Committee on Heritable Disorders in
Newborns and Children.
R. R. Howell. Univ. of Mia
USA.
10:55
AM
Treasure trove or baby DNA database?
Terry. Genetic Alliance, Washington, DC, USA.
11:15
AM
Australian national policy for the use a
storage of biologic samples.
J. M. Fletcher. SA
Neonatal Screening Ctr., North Adelaide, Australia.
11:35
AM
Policy for the storage and use of resid
dried blood spot specimens after newborn
screening: The view from Canada.
F. A. Miller. Uni
of Toronto, Canada.
11:55
AM
Secondary uses of dried blood spots
collected for newborn screening: Public benefits
and public understanding.
C. Dezateux. University
Col. London, U.K.
12:15
PM
Questions and answers.
M. Lloyd-Purye
HHS, Rockville, MD USA.