Methodological Assessment of High-Throughput Sequencing Platforms: Illumina vs. MGI in Clinical-Grade <i>CFTR</i> Genotyping.

ABSTRACT: The growing demand for precision diagnostics in cystic fibrosis and other genetic disorders, such as cancers, is driving the need for sequencing platforms that combine analytical robustness, scalability, and cost-efficiency. In this study, we performed a direct comparison between two leading Next-Generation Sequencing (NGS) platforms, MiSeq (Illumina, CA, USA) and DNBSEQ-G99RS (MGI Tech Co., Shenzhen, China), using a CE-IVD-certified CFTR panel (Devyser AB), selected for its complexity and variant spectrum, including SNVs, CNVs, and intronic polymorphisms. A total of 47 genomic DNA samples from routine clinical activity were analyzed on both platforms. Illumina sequencing covered all CFTR variants using standard workflows, while MGI data were generated from residual diagnosti

SUBMITTER: Beggio M 

PROVIDER: S-EPMC12692382 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature