SNP genotyping measures the genetic variations of single nucleotide polymorphisms (SNPs) that are one of the most common types. SNPs are linked to the etiology of many human diseases. As a result, pharmacogenetists are very interested in it. Besides, currently SNPs is being extended in the HapMap project, which aims to provide the minimal set of SNPs needed to genotype the human genome and CD Genomics experts have widely participated. Thanks to the increase attention, scientists have developed many SNP genotyping methods. Here we briefly introduce five:

1. TaqMan probes are designed to increase the specificity of real-time PCR assays. TaqMan probes consist of a fluorophore covalently attached to the 5’-end of the oligonucleotide probe and a quencher at the 3’-end. It is usually used for a small number of SNP locus analyses.

2. SNaPshot is developed by Applied Biosystems (ABI). It is fluorescently labeled single-base extension principle-based genotyping technology, also known as the small sequencing, mainly for medium-throughput SNP genotyping projects.　

3. High Resolution Melting (HRM) goes beyond the power of classical melting curve analysis by allowing studying the thermal denaturation of a double-stranded DNA in much more detail and with much higher information yield than ever before. The method is easy to handle, rapid, low-cost and accurate in result.

4. The MassARRAY platform is developed by Sequenom. It is a cutting edge genetic analysis tools by primer extension or cleavage reaction combined with sensitive, reliable MALDI-TOF-MS technology. The iPLEX GOLD technology based on MassARRAY platform can routinely design assays at a multiplexing level of up to 40-plex, offering a high level of flexibility and a low cost per genotype. It is specially used for the finding confirmation of genome-wide study, or situation that a limited number of sites have been identified.

5. Illumina BeadXpress platform uses the BeadXpress system of Illumina to batch detect SNP loci, which is able to scan assays ranging from a 1-plex to 384-plex in a single sample at one time. It is often used for genome chip results confirmation, suitable for high-throughput detection. Its micro-bead chip is featured as high density, high reproducibility, high sensitivity, low sample volume, flexible customization, high integration density, high detection screening speed; therefore it can significantly reduce the cost of high-throughput screening.

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CD Genomics