Sequoia genetics Company which belongs to Alcor Bio Group of Companies and is a resident of Skolkovo, has successfully installed and used the equipment for new semiconductor NGS sequencing on the basis of its molecular and genetic laboratory (method of direct reading of the DNA molecule).
The equipment will be used within the Project to create diagnostic solutions to identify newborns with severe hereditary diseases and their carriers among couples planning pregnancy. The proposed approach will significantly improve the information content of the studies and, therefore, improve their quality.
This launch is one of 10 for the Russian Federation. Platform Ion PGM (Life technologies) was selected among other solutions available due to its capabilities to change the performance of the system by replacing the chip, affordable sequencing and constantly high activity of the producer to improve the analytical properties of the system.
The first round of test sequencing and subsequent analysis of the results showed good results for reading and coverage in total. Some problems that are typical for semiconductor sequencing were also identified - significant errors while reading homopolymeric areas. According to the manufacturer, these problems have been partially solved by improving the quality of reagents.
The project is being implemented with the participation of Chemexpert Company and the support of Life Technologies Corporation.