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Russ Altman MD, PhD |
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ABSTRACT
Pharmacogenomics is the study of how variation
in genes can lead to variation in the response
to drugs. In the context of the complete human
genome sequence, we can begin to formulate strategies
for personalized medicine, based on the detailed
sequence of the genes for individual patients.
Pharmacogenomics is thus one of the major ways
in which personalized medicine may become a reality.
The current challenge to pharmacogenomics research
is to gather information about the location and
frequency of variations in human genome sequences,
and information about the associated laboratory
and clinical phenotypes manifested by these individuals,
and to understand how the two correlate. In the
future, we will genotype patients before prescribing
medicines in order to increase efficacy and decrease
side effects. As part of this international effort
in pharmacogenomics, we are building the Pharmacogenomics
Knowledge Base (PharmGKB) which serves the research
community as a resource for genotype and phenotype
data, and visualization and analytic tools to analyze
them. In this talk, I will describe the current
PharmGKB, as well as the challenges facing it in
literature analysis and curation, ontology definition,
and provision of analytic functionalities.
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