BeadArray™ Technology: Enabling an Accurate, Cost-Effective Approach to High-Throughput Genotyping

Abstract

The Human Genome Project has opened the door to personalized medicine, provided that human genetic diversity can be analyzed in a high-throughput and cost-effective way. Illumina has developed a genotyping system that combines very high throughput and accuracy with low cost per SNP analysis. The system uses our BeadArray™ platform, a high level of multiplexing, and modular, scalable automation to meet the requirements for costeffective, genome-wide linkage disequilibrium studies. As implemented in a high-throughput genotyping service facility at Illumina, the system has a current capacity of one million SNP assays per day and is easily expandable. Each SNP call is associated with a quality score that correlates with accuracy.