Nanopore direct RNA sequencing and the epitranscriptome: Advances in mapping native RNA landscapes
An Encyclopedic Guide to Nanopore DRS
Nanopore direct RNA sequencing (DRS) has transformed transcriptomics by enabling single-molecule, long-read sequencing of native RNA without the need for reverse transcription or amplification. In contrast to short-read RNA-seq and cDNA-based long-read approaches, DRS can simultaneously capture multiple RNA modifications, full-length transcript architecture, alternative splicing patterns, and poly(A) tail features within individual molecules, thereby providing an integrated view of transcriptomic and epitranscriptomic regulation. In this comprehensive review, we outline the biophysical principles underlying nanopore DRS and trace its technological evolution. We compare its performance with short-read RNA sequencing, long-read cDNA sequencing, and conventional RNA-modification mapping strategies, highlighting its advantages in isoform-resolved quantification and multi-layer RNA feature integration, while also clarifying contexts in which alternative or combined approaches may be more appropriate for robust biological interpretation. We further summarize optimized experimental workflows, including library construction strategies tailored to diverse RNA biotypes (mRNA, rRNA, tRNA, circRNA, miRNA, and non-poly(A) transcripts), as well as recommended quality-control procedures and sequencing optimization practices. Emphasizing recent computational advances and translational applications of DRS, we cover state-of-the-art algorithms for RNA modification detection, transcript reconstruction, and isoform quantification. We also propose analytical pipelines for poly(A) tail length inference and integrative frameworks that jointly analyze these regulatory layers. We distinguish direct nanopore signals from computational inferences to define confidence levels and emphasize benchmarking and orthogonal validation of readouts. Practical implementation examples are included to facilitate reproducible analysis. Finally, we highlight emerging applications of integrated DRS, including the resolution of complex transcriptomes, the characterization of coordinated epitranscriptomic regulation, and the identification of disease-associated RNA signatures. We also discuss current technical challenges and future perspectives, particularly in relation to multi-omics integration and the broader deployment of DRS in precision medicine as well as in plant and animal research.
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Contents
- Preface
- Introduction
- Nanopore direct RNA sequencing: fundamental principles and developmental trajectory
- Comparative analysis of DRS technology and traditional sequencing technology
- The biological landscape from a DRS perspective
- Transcriptomic architecture from the DRS perspective
- Alternative splicing and quantitative isoform regulation
- Poly(A) tail dynamics and 3’-end regulation
- RNA chemical modifications and epitranscriptomic diversity
- Discovery of noncanonical and noncoding RNA species
- RNA structure and conformational heterogeneity
- Identification of fusion and TE-related transcripts
- Typical application scenarios and breakthrough discoveries of DRS technology
- Design, standardization and optimization of DRS workflows
- DRS data analysis
- Designing, validating, and benchmarking DRS: an integrated framework
- Application-oriented integration of nanopore DRS with multi-omics
- Genome-transcriptome integration and regulatory input-output mapping
- Integration with RNA lifecycle kinetics and nascent RNA profiling
- Epitranscriptomic and chemical-layer integration
- RNA-to-protein integration through DRS: from proteogenomic databases to translational regulation
- Multi-layer integration for regulatory network reconstruction
- Computational and analytical considerations
- Challenges and technical improvements of DRS
- Outlook: toward integrative, haplotype-aware RNA biology
- From feature catalogues to multilayer regulatory logic
- From bulk tissues toward cell types and spatial contexts
- Accessing to a comprehensive repository of RNA modifications
- Plant genome complexity as an advantage: TEs, haplotypes, and evolution
- Clinical and Translational Perspectives: Toward RNA-Informed Precision Medicine
- Toward routine deployment: standardization and multi-omics integration
- Conclusions
- Supplementary tables
- Personalized Plotting
- AS Plot
- AS Transcript Statistics
- IGV Visualization of APA Genes
- AS and Poly(A) Length Joint Analysis
- Counts and Poly(A) Length Joint Analysis
- Sample-wise Poly(A) Length Heatmap
- GOplot
- DEG/DEI Statistical Bar Chart
- SQANTI3 Statistics Plots
- Modification Site Density Across Gene Regions
- Modification and TPM Relationship
- Modification Motif Radar Chart
- References