Oxford Nanopore launches a 24-hour whole genome sequencing workflow for rare disease research

Oxford Nanopore Technologies, the company behind a new generation of molecular sensing technology based on nanopores, has announced the launch of its 24-Hour Whole Genome Sequencing from Blood workflow, enabling rapid and information-rich insights, with true sample-to-answer results in a single day.

The new, low-input protocol has been designed to support urgent clinical research in neonatal intensive care units (NICUs), where 10 million newborns are admitted worldwide each yearⁱ. Of these, 4.2 million are admitted in high-acuity units where rapid whole-genome sequencing (WGS) has the potential to transform clinical careⁱⁱ. By cutting time to results, Oxford Nanopore’s workflow could reduce diagnostic delays through faster, molecular-based decision making (opposed to symptom mitigation), potentially saving lives when every second countsⁱⁱⁱ.

Optimised for speed and breadth, the 24-hour genome workflow delivers ≥30x genome coverage (the target depth for this application) in 13–16 hours, with full analysis completed in 24 hours. It also generates read lengths of up to 30kb, the longest currently available and a critical driver of diagnostic yield. Together, these capabilities make it both the fastest and longest-read option available, providing comprehensive variant detection across single nucleotide variants, structural variants, copy number variants, short tandem repeat expansions, and methylation in a single, streamlined process.

These variants are often the hidden culprits in rare genetic diseases, yet routinely go undetected with legacy methods. By capturing them all in a single workflow, Oxford Nanopore technology has the potential to increase diagnostic yield and shorten the years-long diagnostic odyssey that many families face. Recent data presented by Wendy Chung and colleagues at ACMG 2025 demonstrated that nanopore sequencing delivered a 24% increase in diagnostic yield for patients who had previously tested negative with alternative methods^iv.

Oxford Nanopore’s workflow enables proband-only sequencing (sequencing just the affected individual) with no batching penalties. This flexibility removes the requirement to wait for additional samples to run alongside the proband, which delays time to results. It also offers the smallest device footprint, making the approach accessible to academic medical centres, children’s hospitals, and specialty reference labs - including those contracted by regional NICUs.

“With the 24-hour genome workflow, Oxford Nanopore is enabling the most rapid and comprehensive view of the genome available today,” said Gordon Sanghera, CEO of Oxford Nanopore Technologies. “This reflects our mission to empower researchers with technology that delivers richer insights, more quickly, in areas where every second counts.”

The 24-Hour Genome Sequencing from Blood workflow uses the Ligation Sequencing Kit V14 (SQK-LSK114), runs on R10.4.1 flow cells, and integrates seamlessly with tertiary analysis platforms such as Fabric and Geneyx for streamlined variant interpretation.