Call For Papers: Human Genomic Variation: Disease, drug response and clinical

Francisco M De La Vega delavefm at
Thu Apr 19 19:31:17 EST 2001

Human Genomic Variation: Disease, drug response and clinical
January 3-7, 2002
Island of Kauai, Hawaii, USA

A session of the Pacific Symposium on Biocomputing 2002

The recent completion of the first assembly of the human genome
has provided an invaluable tool for investigating the biology of
our species. Several academic and industrial laboratories are
working to add value to this raw genome sequence by generating
DNA variation and gene expression data. However, researchers are
encountering substantial challenges regarding the management,
annotation and analysis of this information. Many of the
critical issues involved in linking genetic variation to
clinical phenotypes are complicated by a need to synthesize
biological and computational expertise. For example, there is a
need to apply and extend population genetic analyses to high-
throughput data to elucidate underlying patterns of variation in
the human genome. When operating at a high-throughput mode,
extensive software architectures are needed, and quality control
of the data is essential. Current approaches for molecular
profiling call for the combined use of genetics and functional
genomics data. New and improved algorithms for class discovery
and prediction within the combined data sets are needed.
Furthermore, disparate academic and industrial databases must be
integrated in order to connect genomic and clinical information;
yet is unclear that the underlying ontologies used in these
repositories lead to easy interoperation. However, the rewards
for overcoming these challenges will be considerable, including
an improved understanding of genetic disease and the entire
range of normal phenotypic variation and individual differences
in drug response.

The session of the Pacific Symposium on Biocomputing 2002 "Human
Genomic Variation: Disease, drug response and clinical
phenotypes" will provide a forum for biologists and computer
scientists working in academics, government and industry to
discuss and develop new approaches to use high throughput
genetic variation and expression data to inform scientific and
clinical studies.

We encourage academic, industrial and government scientists to
submit manuscripts. In addition to a session for oral
presentation of novel peer-reviewed contributions, there will be
a panel discussion devised to foster exchange between industry
and academic scientists. Participants are invited to discuss
their issues with other peers in this panel session. Posters and
computer demonstrations are also requested to complement the

+ Lessons from single gene variation analyses studies on
human disease and drug response
+ Algorithms and methods for analyzing association, linkage
disequilibrium, and QTL studies using SNPs in candidate
gene sets and whole genome scans
+ Laboratory Information Management Systems for high-
throughput genotyping and functional genomics
+ Methods, algorithms and procedures for QC/QA in high-
throughput genotyping-functional genomics operations
+ Algorithm and methods for molecular classification from
genotypic-phenotypic databases
+ Correlation finding and knowledge discovery in genotypic-
phenotypic databases
+ Ontologies, control vocabularies, data exchange formats,
and data models for genotypic-gene expression-phenotypic
+ Examples of data integration and data mining of genotyping,
gene expression and clinical phenotypic databases
+ Visualization of large-scale genotypic-gene expression data
+ Evolutionary models of genome variability and linkage
disequilibrium vs. empirical data findings

Deadline for paper submission: July 16, 2001
Author notification: August 31, 2001
Deadline for poster abstracts: November 5, 2001

The Pacific Symposium on Biocomputing (PSB 2002) is an
international, multidisciplinary conference for the presentation
and discussion of current research in the theory and application
of computational methods in problems of biological significance.
The symposium is a forum for the presentation of work in
databases, algorithms, interfaces, visualization, modeling and
other computational methods, as applied to the data-rich areas
of molecular biology. PSB 2002 will be held January 3-7, 2002,
in Lihue, Kauai at the Kauai Marriott Resort and Beach Club.

For more information about this session and the whole conference
see the official web site at:


Francisco De La Vega
Applied Biosystems
Foster City, CA, USA
E-mail:delavefm at (Main Contact)

Isaac Kohane
Children's Hospital of Boston and Harvard Medical School,
Cambridge, MA, USA.
E-mail: isaac_kohane at

Joel Claiborne Stephens
Julie Schneider
Genaissance Pharmaceuticals Inc.
New Haven, CT, USA
E-mail: j.schneider at


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