Page 116 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS
Thursday, October 24
4:30
PM
–6:30
PM
Concurrent Invited Session II (37-43)
SESSION 39 – Guilty by Annotation: The Role of Non-
coding Variation in Phenotypic Variation and Disease
Grand Ballroom East, Level 3, Convention Center
Moderators
:
Stephen B. Montgomery, Stanford Univ.;
Emmanouil T. Dermitzakis, Univ. of Geneva
Functional genomic sequencing has highlighted
extensive non-coding genome function. New
transcribed sequences and protein-DNA binding
regions have being increasingly identified en masse.
To understand the impact of diverse genetic variation
and somatic mutation, even those unique to single
individuals, current and future studies will leverage
information from these increasingly high-throughput
functional genomics assays. Such information,
when integrated together into models that predict
trait predisposition will likely improve our ability to
understand diverse etiologies of rare and complex
disease. This session will discuss how genetic
variation influences noncoding genome function
through (1) expression genetic studies and (2)
epigenetic studies and highlight how such information
can be used to identify noncoding variants influencing
or underlying (3) cancer, (4) loss of function variation
and complex disease.
4:30
PM
Finding causal regulatory variants with
genome and transcriptome sequencing.
E. T.
Dermitzakis. Univ. of Geneva.
5:00
PM
Regulatory genomics and epigenomics
of complex disease genetics for fine-mapping and
genome-wide integration.
M. Kellis. MIT.
5:30
PM
Functional analysis of polymorphisms
identified using genome-wide association studies.
J. Taipale. Univ. of Helsinki.
6:00
PM
Interpreting loss-of-function variation
and complex disease association using RNA-seq
and ChIP-seq data.
S. B. Montgomery. Stanford Univ.
Thursday, October 24
4:30
PM
–6:30
PM
Concurrent Invited Session II (37-43)
SESSION 40 – Human Genetics of Common Infectious
Diseases
Room 210, Level 2, Convention Center
Moderators
:
Laurent Abel, INSERM/Univ. Paris
D­escartes; Erwin Schurr, McGill Univ.
Epidemiological and experimental evidence is
accumulating to indicate that human genetics plays a
major role in the development of infectious diseases
after exposure to most microbes. Many studies
have shown that rare life-threatening infectious
diseases in children can result from Mendelian
predispositions leading to selective susceptibility to
a given microbe. However, the genetic determinism
of most common infectious diseases, especially
in adults, remains unclear and involves more
complex genetic predisposition. Limited success
has been achieved so far in the genetic dissection
of common infectious diseases using genome-wide
approaches such as GWAS or positional cloning
strategies. Alternative strategies are needed and will
be discussed and illustrated in four major infectious
diseases (HIV infection, malaria, tuberculosis and
leprosy) such as: 1) decreasing genetic heterogeneity
by focusing on subgroups of patients defined on
the basis of individual/clinical factors (e.g. age and
specific phenotypes in leprosy) or extrinsic factors
(
e.g. pathogen variability in tuberculosis); 2) searching
for rare variants through high-throughput sequencing
(
in HIV infection); 3) using new approaches to define
candidate regulatory regions (in tuberculosis and
malaria); and 4) using HLA expression data as a
quantitative trait to provide functional validation
of initial association findings (HIV infection). The
human genetic dissection of infectious diseases is
of major importance to develop new approaches for
prevention and treatment based on pathophysiology
(
e.g. boosting or restoring a specific immune response)
at a time when the emergence and spread of new and
drug-resistant infectious agents pose vital threats to
humankind.
4:30
PM
Immunogenetic variation characterizing
exceptional control of HIV.
M. Carrington. Frederick
Natl. Lab., Frederick, MD.
5:00
PM
Human genetics and the risk of
infectious diseases.
D. B. Goldstein. Duke Univ. Sch.
of Med.
5:30
PM
Human genetics of leprosy: novel
insights.
E. Schurr. McGill Univ.
6:00
PM
Human genetic studies on tuberculosis
and malaria.
R. Horstmann. Bernhard Nocht Inst. for
Trop. Med., Hamburg.