Comparative genomics: Tools for study of complex diseases

Abstract

Comparative genomic tools provide the means to compare model organism genomes with the human genome. In our studies of the genetics of complex diseases we have employed a number of these tools to identify syntenic quantitative trait loci, putative regulatory elements, conserved gene coding sequence domains, polymorphic elements in coding and noncoding sequences, and conserved gene networks. My colleagues and I have integrated these comparative genomic tools with classical genetic tools to identify genes that influence variation in complex disease traits. In this chapter, I will present examples of the use of these tools for genetic studies relevant to cardiovascular disease. The marked reduction in sequencing costs will soon provide additional data on numerous individuals within multiple species that will again significantly expand the information gained using the comparative genomic tools described here, will increase the information gained, and increase the hypotheses that can be developed using these methods.