Page 115 - ASHG 2013 Program Guide

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INVITED AND PLATFORM SESSIONS
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Thursday, October 24
4:30
PM
–6:30
PM
Concurrent Invited Session II (37-43)
SESSION 37 – Community Efforts to Decipher the
Phenotypic Impact of Genomic Variation
Grand Ballroom West, Level 3, Convention Center
Moderators
:
David H. Ledbetter, Geisinger Hlth. Syst.,
Danville, PA; Joyce A. Mitchell, Univ. of Utah
Significant decreases in the cost of sequencing have
led to the generation of large amounts of genomic
data from patients, both in the research and clinical
settings. However, as more and more variants are
identified in individuals with and without disease,
interpreting these variants has become a bottleneck,
particularly given that a massive percentage of genetic
variation is rare or weak in its effect. It has become
clear that the only path forward is to enable a broad
community effort in data sharing. This session will
address the critical components of data sharing
needed to support a community effort in deciphering
the phenotypic impact of genomic variation.
Speakers will cover the development of standards for
documenting phenotypes and classifying variants with
respect to pathogenicity. Speakers will also provide
an update on NCBI’s public resources, including the
ClinVar database, as a mechanism for data sharing.
Progress on populating the database with useful
data and optimizing it for use in advancing genomic
medicine will be discussed.
4:30
PM
Developing approaches to support
the community in the evaluation, deposition and
curation of genomic variants.
C. L. Martin. Geisinger
Hlth. Syst., Danville, PA.
5:00
PM
Assessing the evidence for causality
of sequence variants: Establishing community
standards.
D. MacArthur. Massachusetts Gen. Hosp.
5:30
PM
Developing standards to represent
human phenotypes.
A. Hamosh. Johns Hopkins Univ.
Sch. of Med.
6:00
PM
Using ClinVar as a resource to evaluate
genomic variation: A clinical laboratory’s
perspective.
S. J. Bale. GeneDx Inc., Gaithersburg,
MD.
Thursday, October 24
4:30
PM
–6:30
PM
Concurrent Invited Session II (37-43)
SESSION 38 – Genetics of Non-communicable
Diseases in sub-Saharan Africa
Room 258, Level 2, Convention Center
Moderators
:
Eleftheria Zeggini, Wellcome Trust Sanger
Inst., Hinxton, U.K.; Adebowale Adeyemo, NHGRI/NIH
Genome-wide association studies (GWAS) have
revolutionized the field of complex trait genetics
but the vast majority of GWAS conducted to date
have been carried out in populations of European
descent. There is a widely-recognized paucity of
well-powered genetic association studies in African
populations, mainly driven by global inequalities in
resources. Sustainable research infrastructure and
enhanced collaborative networks for genomic studies
supported by research funding bodies (e.g. through
the H3Africa Initiative) are transforming the landscape.
Pronounced genetic diversity across ethnic groups
in sub-Saharan Africa (SSA), in conjunction with low
levels of linkage disequilibrium (LD) and differences
in haplotype structure, give rise to challenges when
conducting large-scale genomic epidemiology studies
in SSA populations. Emerging SSA GWAS can lead
to novel discoveries and additionally inform strategies
for designing powerful trans-ethnic meta-analysis and
fine-mapping studies.
4:30
PM
The African Genome Variation Project.
F. Tekola-Ayele. NHGRI/NIH.
5:00
PM
Developing genomic research in
Africa: The case for sickle cell disease.
J. Makani.
Muhimbili Univ. of Hlth. and Allied Sci., Tanzania.
5:30
PM
Discovering podoconiosis susceptibility
genes: From molecules to disease control for a
neglected tropical disease.
M. Newport. Brighton
and Sussex Med. Sch.
6:00
PM
Genomic studies of cardiometabolic
traits in sub-Saharan Africa.
M. Sandhu. Wellcome
Trust Sanger Inst., Hinxton, U.K.