Oliphant Arnold, Barker David L, Stuelpnagel John R, Chee Mark S
Illumina, San Diego, CA 92121-1975, USA.
Biotechniques. 2002 Jun;Suppl:56-8, 60-1.
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 cost-effective, 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
人类基因组计划为个性化医疗打开了大门，前提是人类遗传多样性能够以高通量且经济高效的方式进行分析。Illumina公司开发了一种基因分型系统，该系统将非常高的通量和准确性与低单核苷酸多态性（SNP）分析成本相结合。该系统采用我们的微珠芯片平台、高度的多重分析以及模块化、可扩展的自动化技术，以满足经济高效的全基因组连锁不平衡研究的要求。在Illumina公司的高通量基因分型服务机构中实施时，该系统目前每天能够进行100万个SNP检测，并且易于扩展。每个SNP检测结果都关联着一个与准确性相关的质量分数。
