PSB 2011 - Full paper submission deadline: July 12 2010 (let the co-chair know if you need a few days extension)
Genome-wide associations studies (GWAS) have been very
successful in identifying common genetic variation associated to
numerous complex diseases.
However, most of the identified
common genetic variants appear to confer modest risk and few
causal alleles have been identified. Furthermore, these
associations account for a small portion of the total
heritability of inherited disease variation.
This has led to the
reexamination of the contribution of environment, gene-gene and
gene-environment interactions, and rare genetic variants in
There is strong evidence that rare variants
play an important role in complex disease etiology and may have
larger genetic effects than common variants.
Currently, much of
what we know regarding the contribution of rare genetic variants
to disease risk is based on a limited number of phenotypes and
However, rapid advancement of second
generation sequencing technologies will invariably lead to
widespread association studies comparing whole exome and
eventually whole genome sequencing of cases and controls.
tremendous challenge for enabling these "next generation"
medical genomic studies is developing statistical approaches for
correlating rare genetic variants with disease outcome.
The analysis of rare variants is challenging since methods used
for common variants are woefully underpowered (e.g., accurately
estimating allele frequencies in cases vs. controls requires ~10
observations of the minor allele; however, many of the
functional rare alleles may be present only once in the
Therefore, methods that can deal with genetic
heterogeneity at the trait-associated locus and that can be
applied to both in cases vs. controls and quantitative trait
studies are needed.
Currently, these approaches are in their
infancy and very basic criteria (such as functional annotation,
sequence conservation, or biological pathway classification) are
There is tremendous opportunity to apply data mining
methods outside of the standard statistical toolkit to this
Additionally, deep sequencing will reveal many variants
that are not causal, and in order to reduce the problems of
misclassification, i.e. inclusion of non-causal variants and
exclusion of causal variants in the analysis, it is beneficial
to predict their potential functionality.
Thus, methods to
classify and annotate rare variants for subsequent analysis are
The session of PSB 2011 would focus on distilling current
knowledge in assessing rare variant functionality and their
correlation with complex traits, and more importantly bring
forth methodological questions that need to be addressed for
successful analysis of rare variants.
"GWAS by sequencing"
presents many new challenges and proposed solutions for
interpreting sequencing data from clinical case/control cohorts
will be of particular interest to a diverse audience.
session will similarly consider application-specific algorithms,
analysis methods, or study planning and design tools with
emphasis in the leveraging rare genetic variation in complex
Deadline for full paper submission: July 12, 2010. Deadline for poster abstracts: November 1, 2010.
The Pacific Symposium on Biocomputing (PSB 2011) 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.
PSB 2011 will be held at the Big Island of
Hawaii on January 4-7, 2011.
For more information see the official PSB 2011 Web page:
- How to read a genome-wide association study, genomes unzipped, July 18th 2010