Genomic Convergence: Combining Genetic and Genomic Information to Identify Genes for Complex Traits

• Activity Number: 8
• Type: Invited
• Date/Time: Sunday, August 8, 2004 : 2:00 PM to 3:50 PM
• Sponsor: Biometrics Section
• Author(s): Elizabeth R. Hauser*+
• Companies: Duke University Medical Center
• Keywords: gene expression ; association studies ; linkage analysis

Abstract

With the completion of the human genome sequence, new resources may be brought to bear on the problem of gene identification for complex disease. As the sources of information have become richer, the complexity of genetic analysis has increased. We have coined the term "Genomic Convergence" to describe the process of combining multiple types of genomic information to identify susceptibility genes for complex genetic disease. Sources of information may include genetic linkage analysis in families and genetic association studies, both in families and in case-control datasets. These data may be augmented by information on gene expression in affected tissues, locations of genes and ESTs in the sequence database, as well as regions of evolutionary conservation across species. In addition, phenotypic and clinical covariates may also help clarify the role of individual genes in disease etiology. I will discuss methods for combining information across a variety of sources with the goal of speeding identification of susceptibility genes for complex traits. These concepts will be illustrated with examples from studies of several complex diseases currently under way at the Duke CHG.