Pharma Services Portfolio: Analysis of Target Genes

On behalf of the customer Eurofins Medigenomix analyses candidate genes to search for genetic variants applying different methods.

The analysis may be limited to single coding and/or non-coding gene regions, for example exons, introns and intron/exon boundaries. In addition, the analysis may also extend to the entire gene, comprising all exons and introns, as well as regulatory elements such as the promoter, 3'-untranslated region (3'-UTR) and enhancer elements.

Basically all these analyses aim at detecting all types of known and unknown genetic variations, primary so-called "single nucleotide polymorphisms" (SNPs) in the respective gene sections. Besides, another goal of these gene analyses is to determine the frequency distribution of all detected polymorphisms in the respective sample group or in different ethnical groups.

For example, this is of importance in the early pre-clinical phase of drug development. Knowledge of the polymorphic character of these genes allows a better validation and prioritisation of drug targets. In addition, information on the frequency distribution of the genetic variants facilitates the optimisation of agents.