Adaptation of PCR-based library preparation for DNBSEQ platform for cancer mutation testing in clinical setting

DNBSEQ platform holds promise to become a widespread instrument for various clinical next-generation sequencing applications, from whole genome sequencing to COVID-19 genotyping. However, in the clinical oncology setting it is still restricted to large panel sequencing limiting capacity for routine biomarker screening. The aim of this project was to tailor amplicon-based library construction for DNBSEQ platform. Illumina compatible reagents served as a prototype in order to introduce platform specific adapters. Elaborated reagent kits were used for BRCA1/2 or 34 oncogenes testing both with whole blood and FFPE-derived DNA. Our data shows that DNBSEQ-based analysis demonstrates similar diagnostic efficiency (single sample sensitivity) compared to Illumina based prototype (99%) and even outreaches expected diagnostic parameters of DNBSEQ exome sequencing. Overall, we outline the successful adaptation of PCR-based library preparation for DNBSEQ signifying the importance of tailoring component composition of reagent kit for uniform coverage.