The Sequenom SNP genotyping uses a bead-less and label-free primer-extension chemistry to generate allele-specific products with distinct masses. Allele discrimination is conferred by primer extension with a high-fidelity polymerase enzyme across the SNP site, leading to differences in mass of extended products. Differentiation of genotypes for each of the SNPs multiplexed in one assay is a result of unique mass ranges for the extension primers. The Sequenom module stores the results for each analyzed sample, using the LAS genomic annotation facility.
The user plans a set of aliquots for experiment using the Sequenom technology from the Biobank module. During the experiment planning the user defines also a title and description (optional). After the experiment definition, the user can upload a file with the Sequenom results. A table with the measures for the aliquot scheduled for this kind of experiment is shown, according to the contents of the file. In addition to the measures, the user may also associate a set of files with an experiment.