Nanopore sequencing has emerged as a transformative technology in the study of the central nervous system (CNS), particularly in understanding complex diseases such as epilepsy and multiple sclerosis. One significant study utilized nanopore long-read RNA sequencing to investigate telomeric repeat-containing RNA (TERRA) in aged human cells, revealing that TERRA transcripts can be extensive, ranging from hundreds to over a thousand nucleotides, and are associated with specific epigenetic markers such as H3K4me3 and RNA Pol II (ref: Hsieh doi.org/10.1093/nar/). In the context of epilepsy, a study employing single-nucleus RNA sequencing (snRNA-seq) combined with nanopore sequencing (termed GO-TEN) analyzed samples from patients with focal cortical dysplasia type 2. This approach allowed for the identification of cell-autonomous and non-cell-autonomous transcriptional programs associated with drug-resistant epilepsy, highlighting the importance of single-cell resolution in understanding the genetic underpinnings of the disease (ref: Bizzotto doi.org/10.1073/pnas.2509622122/). Furthermore, research into the gut microbiota's role in multiple sclerosis utilized nanopore sequencing to uncover links between microbiota dysbiosis and disease severity, emphasizing the need for region-specific studies to better understand the interplay between genetics, environment, and CNS disorders (ref: Alshinnawy doi.org/10.1007/s12035-025-05194-9/). Overall, these studies illustrate the versatility of nanopore sequencing in elucidating the molecular mechanisms underlying CNS diseases, providing insights into transcript diversity and disease-associated pathways.

The integration of epigenomic data into clinical practice has shown promising potential, particularly in the prognosis of acute myeloid leukemia (AML). A comprehensive study analyzed DNA methylation patterns from over 3,300 AML patient samples across multiple cohorts, leading to the creation of the Acute Leukemia Methylome Atlas. This atlas includes robust predictive models that can accurately classify AML subtypes and forecast five-year survival rates based on a targeted panel of 38 CpGs (ref: Marchi doi.org/10.1038/s41467-025-62005-4/). The findings underscore the critical role of DNA methylation in AML, suggesting that epigenomic profiling could become a standard component of diagnostic and prognostic assessments in hematological malignancies. This research not only highlights the potential for personalized medicine approaches in treating AML but also raises questions about the applicability of these models across diverse patient populations and the need for further validation in clinical settings.

Advancements in genome assembly techniques have significantly enhanced our understanding of various species, including invasive aquatic organisms. A notable study focused on the chromosome-level genome assembly of Pterygoplichthys pardalis, commonly known as the suckermouth catfish, which has become a problematic invasive species in many ecosystems. By integrating multiple sequencing platforms, including Illumina short reads, nanopore long reads, and Hi-C sequencing, researchers achieved a high-quality genome assembly of 1.51 Gb (ref: Xia doi.org/10.1038/s41597-025-05273-5/). This comprehensive assembly not only provides a valuable resource for studying the biology and ecology of this species but also serves as a model for future genomic studies of other invasive species. The methodology employed in this research exemplifies the power of combining different sequencing technologies to overcome the limitations of traditional genome assembly approaches, paving the way for improved genomic resources across diverse taxa.

Understanding the complexities of transcriptional regulation in brain disorders is crucial for developing targeted therapies. A significant study utilized nanopore long-read RNA sequencing to profile the transcriptomes of various cell types, including human fibroblasts, induced pluripotent stem cells, and stem cell-derived cortical neurons. This research identified a staggering 15,972 transcripts in cortical neurons alone, alongside thousands of differential transcript expression and usage events, highlighting the intricate regulation of gene expression in the brain (ref: Xu doi.org/10.1098/rsob.250200/). The findings emphasize the need for advanced sequencing technologies to capture the full spectrum of transcript diversity and alternative splicing events that may contribute to neurological disorders. By elucidating these regulatory mechanisms, the study lays the groundwork for future investigations into how specific transcript variants may influence disease pathology and treatment responses.

The relationship between gut microbiota and central nervous system disorders has garnered increasing attention, particularly in the context of multiple sclerosis (MS). A recent study employed nanopore long-read sequencing to decode the gut microbiota in MS patients, revealing significant associations between microbiota composition and disease severity (ref: Alshinnawy doi.org/10.1007/s12035-025-05194-9/). This research underscores the potential role of gut dysbiosis in modulating immune responses and disease progression in MS. While previous studies have primarily focused on Western populations, this work highlights the necessity for region-specific investigations to understand how local genetic and environmental factors may influence microbiota composition and its implications for CNS health. The findings suggest that targeting the gut microbiome could represent a novel therapeutic avenue for managing MS and potentially other neuroinflammatory conditions.