The SNP&SEQ Technology Platform is equipped for genotyping projects with one or a few SNPs to hundreds of thousands of SNPs in 100 - 10,000 of samples (Syvänen 1999; Syvänen 2001; Syvänen 2005). Our genotyping systems are based on primer extension technology with fluorescence detection. The reaction principles underlying the genotyping systems are described below. Click on the system of interest to read more, or contact us to discuss the most suitable method for your project.

• Whole-genome genotyping using the Illumina Infinium assay
  Sets of SNPs are available in human, domestic animals and crops ranging from custom sets of 6,000 SNPs to fixed sets of 5,000,000 SNPs to be genotyped for each individual sample. Appropriate for disease association studies, QTL analysis as well as for detecting copy number variation and loss of heterozygosity. Using the HumanMethylation450 array, methylation changes can be detected in more than 480,000 CpG sites in the human genome. It covers 99% of RefSeq genes, with an average of 17 CpG sites per gene region distributed across the promoter, 5'UTR, first exon, gene body, and 3'UTR.
• Highly multiplexed SNP genotyping using the Illumina GoldenGate assay
  Custom SNP panels with 48-3072 SNPs are most commonly used. In addition, fixed panels specific for cancer genetics, or linkage studies in human or mice are available.
• Single SNP analysis with fluorescence polarisation
  Used for genotyping of individual SNPs, suitable for large sets of samples.

References
-Syvänen AC (1999) From gels to chips:"minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms. Hum Mutat 13:1-10
-Syvänen AC (2001) Accessing genetic variation: genotyping single nucleotide polymorphisms. Nat Rev Genet 2:930-942
-Syvänen AC (2005) Toward genome-wide SNP genotyping. Nat Genet 37 Suppl:S5-10