On the basis of  molecular genetics laboratory,  a member of Alkor Bio group and the resident of Scolkovo Innovation Center, the Sequoia Genetics Company has successfully installed semiconductor DNA sequencing equipment (“direct reading method”). This has been the first launch of such sequencer in Saint-Petersburg and the tenth in Russian Federation. Ion PGM platform (Life Technologies) was chosen among others because of its scalability (productivity depends on the usable chip), affordable sequencing cost and regular quality improvement process. Primary sequencing run and data analysis have shown substantial output and sufficient coverage. Results also have revealed problems related to homopolymer reading accuracy that are associated with semiconductor sequencing technique. According to the manufacturer these problems partially have been solved by reagent quality improvement.

Installed sequencing facility will be used within the framework of the project directed at developing new solution in the diagnostic of severe inherited diseases in newborns and for the determination carrier status in couples during family planning. Such approach will increase information value of the genetic tests and thus improve its quality. The project is realizing in partnership with Khimexpert Company and with the support of Life Technologies Corporation.