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The Human Genome Project has led to the discovery of hundreds of thousands of single nucleotide polymorphisms (SNPs). SNPs can act as genetic markers to create high-density maps of the human genome for large-scale genetic analysis for evaluating links between genetic mutations and human diseases and for performing association studies. To create those maps, assays capable of detecting many different SNPs must be developed rapidly, as additional SNPs are discovered. When both the design of and the technology used in the assays can be partially or fully automated, the development process and the time to results can be accomplished quickly and efficiently. Invader technology offers a highly sensitive signal amplification system that detects and quantifies mutations and SNPs from unamplified human genomic DNA in two sequential steps. The technology is isothermal, flexible, and uses a homogeneous fluorescence resonance energy transfer (FRET)-based readout. Only two components of an assay must be designed for its specific target; the universal nature of the other components simplifies assay development and makes the technology well-suited for high-throughput applications using 96-, 384-, and 1536-well microtiter plate formats. Assay design has been computerized and the manufacturing process has been automated, using four different modules (oligo synthesis, purification, concentration normalization and verification testing). This process enables the production of a working assay ready to ship within eight working days from SNP discovery. |
