Thanks to the call for equipment and infrastructures of research and development 2017 of the Government of Navarra, the Genomics platform of CIMA LAB Diagnostics has increased its massive sequencing capacity with the acquisition of the Ion S5 equipment from Thermo Fisher Scientific (project reference letter : 0011-1508-2017-000011).

ThermoFisher Scientific's Ion S5 is a highly flexible Next Generation Sequencing (NGS) system with increased read capacity and allows sequencing to be performed on sample in a non-invasive manner.

The sequencing capability of the Ion S5 kit allows researchers to increase both the issue of samples sequenced and the amount of sequences per sample. The increased sequencing per sample allows:

• Identify genetic markers (SNPs, indels, CNVs and rearrangements) in genes related to treatment response in solid tumors such as melanoma, lung, breast, pancreatic and colorectal cancer, as well as tumors of unknown origin.
• Establish the identity between synchronous tumors or their relationship (primary tumor vs. metastasis).
• Increase the identification of somatic mutations with very leave tumor frequency.

The development of massive sequencing for the detection of relevant genetic variants, obtained in non-invasivesample as plasma or urine, is another great advantage, making viable the development of projects in which it is difficult to obtain a solid biopsy.

This NGS equipment is complementary to those already available for the Genomics platform of CIMA LAB Diagnostics - MiSeq and NextSeq 500 from Illumina - as it increases the sample processing capacity of the platform and allows rethinking research projects that until now have been unfeasible in liquid biopsy.