As a FUGE core facility, CIGENE is responsible for operating a non-profit, national service for the detection, typing and interpretation of Single Nucleotide Polymorphisms or SNPs. A SNP is a single nucleotide base difference between similar sequences within individuals of the same species (for example ATGCTCGAT and ATGCACGAT). This constitutes the smallest possible genetic variation, but their frequency (in humans there is one SNP every 100-300 bp) and significance (accounting for 90% of human genetic variation) make them an extremely important genetic variation. Fortunately, their stability, distribution and nature make them highly amenable to accurate and high-throughput assays designed to determine a SNP bases identity. Understanding the relationship between genotypes and phenotypes on a genomic scale is expected to provide fundamental new insights into the biology of humans and other species.
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Over the last four years CIGENE has built an extensive understanding of the significance of SNPs, the usefulness of SNP data, and the process of SNP genotyping. CIGENE offers SNP genotyping services based on MassARRAY technology (Sequenom), GeneScanner 3000 7G (Affymetrix) and Beadstation 500G (Illumina). These technologies are fully integrated with LIMS sample and data tracking software, and are operated by qualified and experienced staff. Today we can support all aspects of SNP genotyping and assist with:
Experimental Design
SNP Discovery
DNA Extraction and Quantification
SNP Genotyping with medium and high through-put technologies
Data interpretation
