Tumor Diagnosis of FFPE Sample by Target Genome Sequencing From Multiple Sequencing Platforms

Abstract

Technological innovation and increased affordability have contributed to the widespread adoption of target genome sequencing (TS) technologies in scientific research and clinical diagnostic applications. Cancer research consortia showed increasing acceptance of TS techniques to define the mutation landscape of multiple cancer types. These studies have primarily utilized Illumina’s sequencing instruments. In this study, we performed target genome sequencing of Reference OncoSpan FFPE (HD832) sample enriched by TSO500 panel using a new platform, GenoLab M, and compared it with NovaSeq 6000 and NextSeq 550 platforms. The data demonstrated that all three platforms showed high-quality scores, deep coverage, and high concordance for variant detection (94.8%). Besides, the GenoLab M platform displays high accuracy in tumor diagnosis of FFPE sample. Briefly, the GenoLab M platform shows comparable performances with NovaSeq 6000 and NextSeq 550, indicating its potential applicability in cancer TS at a lower cost.