Sarah Grasedieck, Brendan J Keating, Stephen Yip, James Lan, Karen R Sherwood, Paul A Keown
Nanopore sequencing has emerged as a transformative technology, offering unprecedented speed, ultra-long reads, and portability at a comparatively low cost. These attributes are fundamentally reshaping clinical diagnostics and personalized medicine. This review synthesizes the technological advancements driving nanopore sequencing and elucidates its pivotal applications in time-sensitive areas such as HLA matching in transplantation, infectious disease management, pharmacogenomics, and oncology. Nanopore sequencing also enables comprehensive characterization of immune-related genomic variation including HLA, KIR, LILR, Fc receptor loci, immune regulatory variants and epigenetic features. We explore the profound impact of real-time genomics on patient care, emphasizing the potential for point-of-care testing, the acceleration of clinical decision support, and the realization of precision medicine.