The aim of this proposal is to develop high-throughput technology for nucleic acid sequence analysis, by combining a highly specific and sensitive enzymatic assay with a miniaturized array format. By allowing parallel analysis of many sequences directly from genomic DNA without prior target amplification, the combined technology has the potential to eliminate bottlenecks in sample preparation. This will allow dramatic reductions in assay cost and improve reliability and ease of use. The two complementary technologies are the InvaderTM assay and assembled arrays of beads on optical fiber bundles. The feasibility of each technology on its own has been previously established. The Phase I project will therefore center on establishing the feasibility of combining Third Wave's InvaderTM assay with Illumina's BeadArrayTM. The project will use single nucleotide polymorphism (SNP) genotyping as a model that will provide a good functional test of both the specificity and sensitivity of InvaderTM Arrays.
Potential commercial applications include clinical diagnostics, pharmacogenetic studies (e.g. clinical trial design and analysis), the identification of disease-associated genes, and drug target discovery. Potential customers include pharmaceutical companies, genomics companies, research analytical suppliers, research laboratories, and providers of screening services (e.g. clinical diagnostics labs).