Science Unlocked: publication picks from September 2026

In this monthly series, we share a selection of recent publications that use Oxford Nanopore sequencing to unlock novel insights. Spanning brain tumour classification, single-cell transcriptomics, and rare disease research, these studies showcase the advances in scientific research made possible by Oxford Nanopore technology.

Featured in this edition:

1. Paediatric brain tumour classification in just 10 minutes

2. Rare disease trio sequencing at a third of the price

3. Transcriptomics uncovers a potential link between gene dosage and psychiatric disease risk

Cancer research

1. Concordance of rapid whole-genome and targeted nanopore sequencing of paediatric brain tumours with standard clinical testing (Research Square)

Molecular analysis of paediatric brain tumours typically requires several tests, uses precious tissue, and results in weeks of waiting. In a study of 23 tumour research samples, Park et al. showed that Oxford Nanopore sequencing could identify genetic variants, structural alterations, copy number changes, and DNA methylation profiles in one go, achieving 91% concordance with standard clinical testing.

For methylation classification, the authors evaluated three different bioinformatic tools: Sturgeon, Rapid-CNS², and nanoDx. Sturgeon correctly classified 82% of the tumour research samples within just 10 minutes of sequencing, while 86% were correctly classified within an hour by at least two classifiers. These findings highlight the future potential for faster, more streamlined molecular characterisation of paediatric brain tumours using nanopore sequencing.

Listen to Min Seon Park give an overview of her research below or watch her talk at London Calling 2026.

Find out how you can explore the full landscape of cancer biology with a single platform.

Human genetics

2. Cost-efficient trio-barcoded nanopore sequencing with Adaptive Sampling supports rare disease diagnosis (Nature Communications)

Rare disease research studies often use short-read whole-genome sequencing to try and uncover causal genetic variants. But short reads can miss structural variants and repeat expansions, and can’t reveal methylation patterns without chemical conversion. Additionally, sequencing an affected child and both parents can be prohibitively expensive for some healthcare settings.

Oxford Nanopore sequencing can overcome these limitations. Fu et al. used nanopore sequencing to analyse research samples from 13 families with confirmed or suspected rare diseases. Long, native nanopore reads can reveal the genetic and epigenetic variants missed by short reads, and the team were able to keep sequencing costs low by barcoding the samples, loading each trio onto a single PromethION Flow Cell, and using Adaptive Sampling to enrich phenotype-relevant genes.

Adaptive Sampling improved coverage of target regions while reducing sequencing consumable costs to around one-third of conventional trio sequencing. Across the 13 families, the researchers confirmed all five previously known diagnoses and identified promising candidate variants in an additional five unsolved cases. This highlights the potential of nanopore sequencing to improve access to comprehensive rare disease analysis at scale in the future.

Beyond genomic approaches, researchers are also using transcriptomics for rare disease research. Read our blog to find out how a new sample-to-answer workflow could provide RAPID answers for rare diseases.

Single-cell sequencing

3. Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders (Molecular Psychiatry)

Understanding how disease-associated genetic variants affect individual neural cell types requires more than a gene-level view. Using bulk and single-cell nanopore transcriptomics, Zehra et al. captured full-length transcripts from human stem-cell-derived cortical neurons with reduced PPP1R9A activity, the gene that encodes the neuronal protein Neurabin I. Nanopore sequencing resolved transcript isoforms and revealed cell-type-specific changes that would be obscured in pooled measurements, including a PPP1R9A isoform detected only in mutant neurons.

Their findings linked reduced Neurabin I to delayed neuronal development and disruption of gene programmes involved in ion-channel regulation and synaptic communication. Combined with electrophysiology and proteomics, these insights explained how neurons could form unusually complex branches while remaining functionally immature. Restoring full-length PPP1R9A reversed many molecular changes, clarifying how reduced Neurabin I dosage may contribute to neurodevelopmental and psychiatric disease risk.

Check out our single-cell sequencing applications page to find out how you could get ultra-rich single-cell transcriptome data without compromise.

Apply Oxford Nanopore sequencing to your own research questions and you'll never see sequencing the same way again. Explore the nanopore sequencing solution.

Oxford Nanopore Technologies products are RUO. Products labelled/branded as OND may be RUO or may be regulated as in-vitro diagnostic devices in some jurisdictions.