High Throughput DNA Re-Sequencing

 

Many common diseases (such as heart disease, obesity, cancer), while not displaying a clear genetic inheritance, are nonetheless presumed to have major genetic contributors to their etiology. Ultimately, to uncover the genetic contributors to these sorts of severe disorders, extensive sequence information from a large number of affected and unaffected individuals will be required to identify causative mutations. To test this hypothesis we have established a high throughput re-sequencing pipeline at the Joint Genome Institute to explore this area of genetics.

 

One of the challenges following the identification of putative mutations in candidate genes is the formal proof that these are in fact mutations and not simply rare sequence variants unique to that individual.  As putative mutations are identified in clinical samples, genetic engineering of the mouse genome is being performed to functionally determine if the variant recapitulates phenotypes found in humans.  Additional resequencing studies are being performed in species of interest to bioenergy-related biology including the resequencing of microbes, fungi and plant genomes.