Tuesday, April 18, 2006
4:30 pm
B17 Upson Hall

Computer Science
Spring 2006

New Life Sciences

Eleazar Eskin
UC San Diego

Genomic Approaches to Understanding the Genetic Basis of Human Disease

Variation in human DNA sequences account for a significant amount of the genetic risk factors for common disease such as hypertension, diabetes, Alzheimer's disease, and cancer. Identifying the common variation that influences susceptibility to disease will usher in a new era of personalized medicine where treatment decisions are based not only on clinical observations, but also take into account an individual's genetic makeup. Recent technological advances in high-throughput genotyping technology allow us for the first time to collect human variation information on a large enough scale to identify the variation involved in disease. This talk focuses on two challenges associated with the analysis of high-throughput genotype data. Since the new cost effective technologies obtain human variation information from both pairs of human chromosomes simultaneously, the first step in analysis of these datasets is computational prediction of the human variation on each chromosome or the haplotype phasing problem. We discuss the results of our collaboration with Perlegen Sciences on the phasing of whole genome human haplotypes. A second challenge is the association of whole genome variation data to phenotypic data or clinical traits. Using the inbred mouse as a model organism, we demonstrate how our methods are able to discover many regions in the mouse genome associated with phenotypes and how many of our predictions are consistent with genes known to influence specific traits.

Eleazar Eskin received his Ph.D. in Computer Science at Columbia University in October 2002. After graduation, he was a post-doctoral researcher at Hebrew University in Jerusalem, Israel. He is currently an Assistant Professor in Residence in the Department of Computer Science at the University of California, San Diego and affiliated with the California Institute of Telecommunications and Information Technology (Calit2).