Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.

ABSTRACT: The implementation of next-generation sequencing (NGS) technologies in clinical diagnostics requires rigorous validation of sequencing platforms and analytical workflows. In this study, we validated the performance of the Illumina NovaSeq6000 Research Use Only (RUO) platform, combined with automated library preparation using the Hamilton Microlab STAR system, by comparison to the CE-IVD certified NovaSeq6000Dx platform, which currently relies on manual library preparation. A total of 96 clinical samples underwent whole-exome sequencing (WES) on both platforms. Variant detection performance was assessed for single nucleotide variants (SNVs) and copy number variants (CNVs). The RUO platform demonstrated 100 % concordance with the CE-IVD system for clinically relevant SNVs, with full agreemen

SUBMITTER: Pasquinelli E 

PROVIDER: S-EPMC12639258 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature