title: 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 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
authors.affiliation: Illumina, San Diego, CA 92121-1975, USA. aoliphant@illumina.com
authors.forename: Arnold
authors.initials: A
authors.lastname: Oliphant
authors.forename: David L
authors.initials: DL
authors.lastname: Barker
authors.forename: John R
authors.initials: JR
authors.lastname: Stuelpnagel
authors.forename: Mark S
authors.initials: MS
authors.lastname: Chee
mesh_terms: D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis / Q000191:economics* / Q000295:instrumentation* / Q000379:methods; D004867:Equipment Design; D005336:Fiber Optic Technology; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D016247:Information Storage and Retrieval; D008904:Miniaturization; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000295:instrumentation / Q000379:methods; D014481:United States