Detection of SNVs and rare mutations
SNVs stand for Single Nucleotide Variants in a genome, determining the variability in a population. It is estimated that approximately 90% of single nucleotide variants are SNVs of the frequency rate greater than 1%. The frequency rate of SNV smaller than 1% determines the occurrence of rare mutations. Rare mutations are often correlated with various disease units and their detection is a key factor in medical diagnostics.
Our offer includes the analysis of SNVs and rare mutations involving:
- SNV detection;
- Rare mutations detection;
- Determining the frequency rate of a variant in European, Asian, American, African and global populations;
- Determining the pathogenicity of a variant and the effect of its occurrence;
- Correlating a detected variant with disease units;
- Choosing pharmacological therapy;
- A list of available medical clinics and experimental researches in Poland and abroad;
- Annotation of detected variants to the information in biological and diagnostic databases.