From N-Care to future clinical practice: implementing long-read whole-genome sequencing for rapid diagnosis and precision care
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Long‑read whole‑genome sequencing (lrWGS) is reshaping rare disease research — empowering scientists to explore single nucleotide variants, structural variants, repeat expansions, methylation changes, and other complex genomic features that often remain hidden with short‑read methods.
Ni‑Chung Lee will share insights from the N‑Care Project, a pioneering initiative across Asia‑Pacific that demonstrated how comprehensive, rapid long‑read sequencing can deepen understanding of rare genetic disease and inform future pathways toward clinical translation. This webinar will look ahead to how researchers and laboratories are developing frameworks for assay design, validation, data analysis, and quality management that may support the eventual adoption of long‑read sequencing in clinical genomics.
In this webinar, you will learn:
- How long‑read sequencing expands variant detection and enhances rare disease research
- Key outcomes from the N‑Care Project and their implications for future diagnostic strategies
- New approaches developed by our users to validation, workflow design, and bioinformatics that may guide clinical readiness
- How Oxford Nanopore’s technology is helping shape the future of precision genomics — bridging the gap between today’s discoveries with tomorrow’s clinical impact
Meet the speakers
Oxford Nanopore sequencing offers a fundamentally different approach to genomic analysis, combining real-time data generation with long sequencing reads and direct detection of DNA methylation. These capabilities enable comprehensive characterisation of genomic variation within a streamlined workflow. This introductory session will provide an overview of Oxford Nanopore technology and its emerging applications in human genetics, highlighting how rapid and comprehensive genomic analysis is creating new opportunities for rare disease research and critically ill infants.
Oxford Nanopore sequencing offers a fundamentally different approach to genomic analysis, combining real-time data generation with long sequencing reads and direct detection of DNA methylation. These capabilities enable comprehensive characterisation of genomic variation within a streamlined workflow. This introductory session will provide an overview of Oxford Nanopore technology and its emerging applications in human genetics, highlighting how rapid and comprehensive genomic analysis is creating new opportunities for rare disease research and critically ill infants.
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Mavis Tan, Senior Clinical Sales Specialist, Oxford Nanopore TechnologiesLrWGS is transforming the diagnosis of rare and genetic diseases by enabling comprehensive detection of single nucleotide variants, structural variants, repeat expansions, methylation abnormalities, and other complex genomic alterations that are often missed by conventional short-read sequencing. Recent advances in Oxford Nanopore Technologies have also enabled rapid turnaround times suitable for clinical decision-making in acute care settings.
N-Care experience: a clinical proof-of-concept
The N-Care Project, initiated by the Asia-Pacific Society of Human Genetics in 2025, established a collaborative network to provide rapid nanopore-based genome sequencing for critically ill infants across Asia-Pacific, being validated by the project team. Among the first 65 enrolled cases, the diagnostic yield reached 55%, with an average turnaround time of approximately 6.9 days. Importantly, long-read sequencing identified several diagnoses that would have been difficult or impossible to resolve using conventional short-read approaches, including phased compound heterozygous variants, structural variants, methylation abnormalities, and pseudogene-associated copy-number changes. All diagnosed cases resulted in clinically actionable outcomes, including therapeutic modifications, specialist referral, surveillance planning, or palliative care decisions.
From clinical research to laboratory-developed testing
Building upon the N-Care experience, this webinar will discuss the practical considerations of lrWGS as a laboratory-developed test within clinical genomic services. Topics will include assay design and validation, quality management considerations, bioinformatics pipelines, variant interpretation strategies, reporting standards, and integration into routine diagnostic workflows. The opportunities and challenges of adopting long-read sequencing in both tertiary medical centres and regional networks will also be explored.
Conclusions
LrWGS technologies are rapidly evolving from an emerging technology to a clinically deployable diagnostic platform. The experience gained through N-Care demonstrates its potential to improve diagnostic yield, shorten the diagnostic odyssey, and support precision care. As clinical laboratories establish validated long-read sequencing services, this technology is poised to become an important component of routine genomic medicine for patients with rare and suspected genetic disorders.
LrWGS is transforming the diagnosis of rare and genetic diseases by enabling comprehensive detection of single nucleotide variants, structural variants, repeat expansions, methylation abnormalities, and other complex genomic alterations that are often missed by conventional short-read sequencing. Recent advances in Oxford Nanopore Technologies have also enabled rapid turnaround times suitable for clinical decision-making in acute care settings.
N-Care experience: a clinical proof-of-concept
The N-Care Project, initiated by the Asia-Pacific Society of Human Genetics in 2025, established a collaborative network to provide rapid nanopore-based genome sequencing for critically ill infants across Asia-Pacific, being validated by the project team. Among the first 65 enrolled cases, the diagnostic yield reached 55%, with an average turnaround time of approximately 6.9 days. Importantly, long-read sequencing identified several diagnoses that would have been difficult or impossible to resolve using conventional short-read approaches, including phased compound heterozygous variants, structural variants, methylation abnormalities, and pseudogene-associated copy-number changes. All diagnosed cases resulted in clinically actionable outcomes, including therapeutic modifications, specialist referral, surveillance planning, or palliative care decisions.
From clinical research to laboratory-developed testing
Building upon the N-Care experience, this webinar will discuss the practical considerations of lrWGS as a laboratory-developed test within clinical genomic services. Topics will include assay design and validation, quality management considerations, bioinformatics pipelines, variant interpretation strategies, reporting standards, and integration into routine diagnostic workflows. The opportunities and challenges of adopting long-read sequencing in both tertiary medical centres and regional networks will also be explored.
Conclusions
LrWGS technologies are rapidly evolving from an emerging technology to a clinically deployable diagnostic platform. The experience gained through N-Care demonstrates its potential to improve diagnostic yield, shorten the diagnostic odyssey, and support precision care. As clinical laboratories establish validated long-read sequencing services, this technology is poised to become an important component of routine genomic medicine for patients with rare and suspected genetic disorders.
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Ni-Chung Lee, Clinical Professor & Director, Laboratory of High Throughput Sequencing, Department of Medical Genetics, Taiwan University Hospital, Taipei, Taiwan
