Clinical applications of whole-genome association studies: future applications at the bedside

Abstract

Until now, performing whole-genome association studies has been an unattainable, but highly desirable, goal for geneticists. With the recent advent of high-throughput genotyping platforms, this goal is now a reality for geneticists today and for clinicians in the not-so-distant future. This review will cover a broad range of topics to provide an overview of this emerging branch of genetics, and will provide references to more specific sources. Specifically, this review will cover the technologies available today and in the near future, the specific types of whole-genome association studies, the benefits and limitations of these studies, the applications to complex disease–gene interactions, diagnostic devices, therapeutics, and finally, we will describe the 5-year perspective and key issues.

Keywords::

• complex disease
• genetic linkage
• linkage disequilibrium
• linkage disequilibrium mapping
• microarray
• population-based cohorts
• resequencing
• short tandem repeat polymorphism
• single nucleotide polymorphism
• whole-genome association