Nanopore sequencing technology in clinical diagnostics and genomic research: Opportunities and challenges

Nanopore sequencing technology, an advanced third-generation sequencing technology, is a revolutionary sequencing method widely used in clinical diagnosis and genomic research because of its features such as real-time sequencing, direct sequencing, long read length and portability. This paper outlines the basic principles and advantages of the technology, and briefly introduces its applications in clinical medicine such as diagnosis of diseases rare and genetic diseases, detection of infectious disease pathogens, public health emergency response, and cancer genomics screening. In genomics, nanopore sequencing is instrumental in genome assembly, structural variation detection, recovery of DNA from ancient organisms, and microbiological research. It enables direct sequencing and analysis of molecules, allowing for the identification of complex structural variations within the genome. This study finds that the technology also suffers from low accuracy, high cost associated with large data volumes, and significant requirements for data processing capabilities. These limitations can potentially be addressed through innovations such as improved nanopore materials and design, and integration with artificial intelligence. Finally, the latest innovations of the technology are analyzed, and the development trend and application prospects are outlooked.