Sirius Genomics’ expertise lies in our ability to correlate genes with physical attributes and apply our clinical and regulatory knowledge to translate these biomarker discoveries into potential companion diagnostics. We look for populations with a genetic profile that is linked to improved clinical outcomes when administered a particular drug.

Specifically, we look at Single Nucleotide Polymorphisms (SNPs) within genes of interest to determine the phenotypes that are associated with the individual SNPs. In studying these correlations, we look for SNPs that function as biomarkers and SNPs that are predictive of a positive response to a drug. These genetic correlations to clinical outcomes form the proprietary foundation for the diagnostic and pharmacogenetic tests that Sirius Genomics develop.

What is a Single Nucleotide Polymorphism?

A Single Nucleotide Polymorphism, or “SNP” is a nucleotide position within a DNA sequence at which two or more variants exist. SNPs are the most common form of DNA variation. If the SNP is in a gene, it can disrupt the gene’s function. A SNP in a regulatory region (e.g. promoter) can alter the quantity of transcription and translation, and hence the amount of protein. Most SNPs do not occur in genes but can be associated with other types of DNA variation and so are used effectively as markers.