Nanopore sequencing has emerged as a transformative tool in the diagnostics of central nervous system (CNS) tumors and infections, enabling rapid and accurate genomic analysis. One significant study introduced the ROBIN assay, which integrates intraoperative methylome classification with next-day comprehensive profiling, allowing for ultra-rapid tumor diagnosis. This advancement is particularly crucial as it shifts the diagnostic paradigm from traditional histopathological methods to genomic-based classifications, enhancing the precision of tumor identification and treatment planning (ref: Deacon doi.org/10.1093/neuonc/). The study highlights the potential of nanopore sequencing to deliver results in real-time during surgical procedures, thereby facilitating immediate clinical decision-making and improving patient outcomes. In the context of CNS infections, another study evaluated the diagnostic performance of nanopore sequencing compared to conventional microbial culture methods. The findings revealed that nanopore sequencing exhibited a sensitivity of 79.41%, significantly outperforming microbial culture, which had a missed diagnosis rate of 36.67%. The combination of nanopore sequencing with microbial culture yielded a high consistency with clinical diagnoses (K = 0.717, P < 0.05), suggesting that nanopore sequencing can serve as a valuable adjunct in diagnosing postoperative central nervous system infections (ref: Xie doi.org/10.1016/j.wneu.2025.124090/). This dual application of nanopore technology underscores its versatility and effectiveness in both tumor and infection diagnostics within the CNS.

The genomic and epigenetic landscape of CNS disorders has been significantly advanced through the application of nanopore sequencing technologies. The ROBIN assay not only facilitates rapid tumor diagnosis but also emphasizes the importance of epigenetic signatures in classifying CNS tumors. This shift towards genomic sequencing in diagnostic decision-making reflects a broader trend in the field, where understanding the epigenetic modifications can lead to more tailored therapeutic approaches (ref: Deacon doi.org/10.1093/neuonc/). The ability to perform such analyses intraoperatively represents a critical advancement in the management of CNS tumors, allowing for immediate adjustments to surgical strategies based on genetic insights. Additionally, the exploration of repeat expansions in genes such as FGF14 has shed light on their role in spinocerebellar ataxia. A study utilized various sequencing techniques, including long-range PCR and nanopore sequencing, to characterize repeat interruptions and their potential impact on disease penetrance. This research indicates that understanding the genetic underpinnings of CNS disorders through comprehensive genomic analysis can reveal modifiers of disease severity and progression (ref: Laß doi.org/10.1093/brain/). The integration of these genomic insights into clinical practice could enhance diagnostic accuracy and inform personalized treatment strategies for patients with CNS disorders.

The interplay between infectious agents and CNS health has garnered attention, particularly regarding the effects of latent infections on brain function and behavior. A study investigating Toxoplasma gondii revealed that different genotypes of this parasite can significantly alter mouse behavior and brain transcript profiles. Notably, genes associated with major histocompatibility complex (MHC) class II molecules were upregulated, while those related to synaptic transmission and neurodegenerative diseases were downregulated, suggesting a potential mechanism for behavioral disorders linked to latent infections (ref: Zhou doi.org/10.1186/s13071-025-06819-7/). This highlights the complex relationship between infectious agents and neurological health, emphasizing the need for further research into how such infections can influence cognitive and emotional outcomes. Moreover, the diagnostic capabilities of nanopore sequencing in identifying pathogens in postoperative CNS infections have been underscored. By demonstrating superior sensitivity compared to traditional microbial culture methods, nanopore sequencing not only enhances diagnostic accuracy but also reduces the rate of missed diagnoses, thereby improving clinical management of infections (ref: Xie doi.org/10.1016/j.wneu.2025.124090/). The convergence of these studies illustrates the critical role of advanced genomic technologies in understanding and addressing the impact of infectious agents on CNS health.