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Long-read Whole Genome Sequencing: Enhancing Diagnostic Power Across Clinical Applications

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The webinar delivered data-driven insights into the current state of long-read sequencing, with a focus on clinical practice, presented from the perspectives of both a clinician and a medical genomics expert. It is essential viewing for clinical operations managers and organizations seeking to improve diagnostic yield and ensure that their strategies for 2026 are aligned with newer technologies that are cost-effective, practical, and make a meaningful contribution to patient care.

The Importance of Clinical Genomics, and the Missing Pieces

Genetic variation is the root cause of many diseases. While many variants are well characterized and their clinical implications are understood, the genetic causes of many rare and complex conditions remain unknown or only partially elucidated. Single-nucleotide mutations and other small variants play an important role in genetic disease, but they do not tell the full story. Larger variants, including structural variants and repeat expansions, are known contributors to disease, but their full impact on the genetic disease landscape remains poorly understood. Short-read sequencing is highly effective for detecting small genetic variants, but it struggles to resolve larger variants, leaving many patients without a definitive diagnosis and clinicians with limited information with which to guide treatment.

Long-Read Sequencing Comes of Age

Dr. Nahas opened the discussion with an overview of current long-read sequencing technologies, highlighting how the field has undergone a dramatic transformation in recent years. Historically, long-read sequencing has been low-throughput and expensive, and used only for niche applications and small cohort studies. Today, it offers much higher throughput at a lower cost, making it suitable for clinical and commercial applications.

Dr. Nahas explained how long-read sequencing provides accurate detection of different variant classes to support rare and complex disease diagnosis. It is also valuable in pharmacogenomics, where it enables accurate star-allele resolution, and in population genomics, where it enables high-accuracy phasing. Long-read sequencing can significantly improve clinical interpretation and epidemiological insights, especially for populations underrepresented in existing genomics studies. It also excels in preclinical GLP gene-editing assessments, where it helps evaluate clonal stability, detect unintended edits, and generate high-quality reports for regulatory review. In short, it is a powerhouse across commercial, clinical, and translational pipelines, and is already in use by early adopters.

Dr. Nahas also presented a practical framework for implementing long-read whole-genome sequencing (WGS) within CLIA/CAP-regulated clinical environments, including detailed guidance on the analytical validation of short tandem repeat coverage across diverse loci. This section of the webinar is a must-watch for any organization considering adopting long-read WGS into their clinical workflows.

A Clinician’s Perspective on Long-Read Sequencing

In the second part of the webinar, Dr. Ellsworth provided her perspective on long-read sequencing as a clinician working with patients with genetic disorders. Dr. Ellsworth began by highlighting the power of short-read sequencing in rapid clinical genetic testing. She then outlined the limitations of short-read sequencing, including alignment ambiguity caused by high sequence similarity, reduced sensitivity to larger variants, and difficulties detecting repeat expansions and epigenetic features that are critical for the analysis of many neurological disorders.

Dr. Ellsworth presented several practical examples illustrating the contrasting ability of long-read and short-read sequencing to resolve short tandem repeats in clinical samples. Some short-read sequencing reads spanning repeat regions were lower in quality, leading to less reliable variant calls, whereas long-read sequencing provided improved resolution in these regions. Based on these findings, the team at RCIGM recognized the value of incorporating long-read sequencing to improve diagnostic yield and reduce final report turnaround time in certain cases. Dr. Ellsworth and her team now include long-read sequencing as an integrated part of their WGS pipelines for repeat expansion detection.

Making Large-Scale Long-Read Sequencing a Reality

Dr. Nahas and Dr. Ellsworth agreed that the question is no longer whether long-read sequencing belongs in clinical diagnostics, but how it can be integrated without disrupting existing operations. As costs decrease and throughput increases, the application of long-read sequencing is likely to expand significantly in the clinical setting. Laboratories that invest early and maintain flexible sequencing and downstream analysis infrastructure will be best positioned to benefit.

To conclude the webinar, Dr. Nahas and Dr. Ellsworth engaged in an insightful discussion on what it truly takes to implement long-read sequencing at scale, covering critical considerations such as DNA quality and quantity, extraction methods, and the need for purpose-built facilities. Their conversation reinforced that success depends not only on technology, but on robust, CLIA/CAP-compliant frameworks and expert-led processes that integrate seamlessly into existing clinical genomics programs.

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Ready to try long-read sequencing for yourself?

Sampled is a Certified Service Provider (CSP) for the PacBio Revio and offers end-to-end long-read sequencing services.

Contact our team to see how you can use long-read sequencing to unlock genomic insights and achieve improved outcomes in your clinical or commercial workflows.

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Piscataway, NJ – Sampled, an integrated analytical laboratory and biorepository, has partnered with Lighthouse Lab Services to provide scalable laboratory solutions for clients across the biomedical sector.

Research and clinical laboratories are under increasing pressure to deliver more results while working with tighter budgets. Growing a laboratory under these constraints poses significant challenges. Acquiring new laboratory facilities and equipment can stretch budgets, while a lack of resources makes it more challenging to maintain standards and add new services. These factors threaten operations and laboratory performance, with knock-on effects for downstream clients, diagnostic applications, and patients.

Lighthouse Lab Services offers a range of services to help laboratories get started, run efficiently, and expand their operations. Their expertise spans crucial biomedical areas, such as toxicology, pathology, molecular diagnostics, and related fields. Lighthouse Lab Services helps clients achieve efficiency through expert consulting across key areas, such as equipment procurement, recruitment, software, and quality and compliance solutions.

The partnership between Sampled and Lighthouse Lab Services will give clients access to our comprehensive sample processing, storage, multiomics, and cellular services. Outsourcing through this partnership will enable laboratories to scale up their operations without incurring excess capital expenditures for laboratory space and equipment. This will enable labs to grow their capabilities rapidly while controlling costs.

About Sampled

Sampled is a fully integrated laboratory and biorepository with industry-leading storage, sample management, multiomics, cellular services, and custom clinical kitting. Founded in 1999 as RUCDR at Rutgers University, Sampled operates facilities in the US and UK and is CAP accredited and CLIA licensed. Sampled is committed to providing the highest quality sample storage, processing, and analysis services that enable researchers to make new discoveries and advance human health. When combined with state-of-the-art biobanking facilities, these capabilities provide comprehensive scientific solutions that speed time to quality data.

Media Contact

Caroline Mitchell, PhD

Director, Content & Creative Strategy, Sampled

communications@sampled.com

Clinical trials are an increasingly global endeavor. Collaborations between pharmaceutical companies, academic bodies, healthcare institutions, CROs, and CDMOs require a robust, highly regulated infrastructure for storing and distributing IMPs to international sites. Such infrastructure must ensure the safety and security of sensitive materials, achieve timely delivery, and maintain adaptive regulatory compliance.

Companies must partner with a MIA (IMP) licensed provider to meet these demands for import into the UK. This accreditation enables the storage and distribution of IMPs and facilitates the exchange of IMPs with other licensed entities through a Qualified Person. Finding an MHRA-certified partner who meets the highest standards of trust and quality is essential. Choosing the wrong partner can put clinical trials at risk through diminished IMP quality and regulatory non-compliance.

The recent MIA (IMP) license renewal and MHRA certification reinforce Sampled as a trusted, world-class partner for the storage and transport of IMPs. Our scalable storage and distribution solutions are built to support the evolving needs of organizations running global clinical trials, offering a safe, cost-effective, and fully compliant way to store and ship investigational materials through the UK.

“Sampled’s MHRA certification under our renewed MIA (IMP) license cements our global reputation for maintaining the highest standards of quality and control in handling clinical trial materials. On the back of our recent WDA licensing, this accreditation reinforces Sampled as a safe pair of hands for regulated storage and distribution at any scale, vindicating the trust leading pharmaceutical companies place in our capabilities.”

Mike Whatmough

General Manager UK, Europe & Global Technical Services, Sampled

View the press release on PRNewswire

About Sampled

Sampled is a fully integrated laboratory and biorepository with industry-leading storage, sample management, multiomics, cellular services, and custom clinical kitting. Founded in 1999 as RUCDR at Rutgers University, Sampled operates facilities in the US and UK and is CAP accredited and CLIA licensed. Sampled is committed to providing the highest quality sample storage, processing, and analysis services that enable researchers to make new discoveries and advance human health. When combined with state-of-the-art biobanking facilities, these capabilities provide comprehensive scientific solutions that speed time to quality data.

Media Contact

Caroline Mitchell, PhD

Director, Content & Creative Strategy, Sampled

communications@sampled.com

The Sampled breakout session featured our Chief Scientific Officer (CSO) Shareef Nahas, PhD alongside the CEO and Founder of Nucleus Genomics, Kian Sadeghi. Their discussion covered many sub-topics within the multiomics umbrella, including how genome sequencing has evolved over the last 20 years, where the field is going, and how to bring genomic sequencing to the clinic and make it more widely available to the public.

The Evolution of Multiomic Technologies Over the Last 20 Years

Multiomic techniques are not a recent breakthrough. However, they have yet to reach their full potential. Modern research, including clinical studies, demands the ability to perform multiomics at scale, providing multidimensional insights into patient health before, during, and after treatment. This level of information, including data generated by NGS, opens the door for truly personalized medicine. Ensuring this information can be extracted at scale and with quality requires dedicated infrastructure and expertise.

Achieving Quality at Scale to Drive the Personalized Medicine Revolution

The discussion between Shareef and Kian focused on how to bring the promise of genomics-based medicine to the real world. Part of the solution, they believe, lies in providing the scalability and quality needed for actionable insights at scale.

Their chat covered the early years of omics and is a fascinating discussion of where we have come from and where we are going. Genomics offers valuable insights at both the individual and population levels. Large-scale studies are deepening our understanding of disease, while growing access to genome sequencing, along with improved education about it, empowers individuals to take greater control of their health.

Expanding Access to Genetic Insights

Many diseases have genetic roots, yet 90% of people are unaware they may carry genetic risk factors. This untapped information could empower individuals to take a more proactive approach to their health, improving their long-term wellbeing and lessening the burden on the healthcare system. Early tools like microarrays offer only limited genetic insights, but NGS can now analyze entire genomes at rapidly lowering costs. With recent advances in technology, logistics, and data reporting, NGS insights are more accessible and affordable than ever, bringing us closer to a future where a single cheek swab can reveal a person’s complete genomic health profile.

Shareef and Kian emphasized the need to shift our understanding of genetics, from viewing it as a separate or secondary aspect of medicine to recognizing it as a central component of healthcare, providing essential information for guiding personalized, effective care.

The Need for Technology and Expertise at Scale

A key challenge highlighted during the breakout session was managing the massive volume of data and samples needed to make genome sequencing practical at the population level. Each full genome generates an enormous amount of information that must be accurately analyzed and converted into actionable insights. Scaling personalized genomics to serve a broader population requires advanced logistics, expert sample handling, and high-quality analytical infrastructure, resources that only a few facilities can currently provide. Sequencing is a highly sensitive technique, and maintaining data accuracy is crucial for effective patient care, making expert oversight essential at every stage. To support this level of quality and scale, large, centralized facilities are indispensable.

Watch the Full Summit Online

The GEN Summit highlighted the crucial role of multiomics in the future of healthcare. Here’s a snapshot of the talks you don’t want to miss out on:

Jacob Thaysen, PhD, CEO of Illumina

• How Illumina is driving down the cost of sequencing
• The importance of AI in large cohort studies and multiomics approaches

Cecilia Lindskog, PhD, Research Group Leader at Uppsala University & Fabian Coscia, PhD, Research Group Leader at Max Delbrück Center for Molecular Medicine

• Exciting developments in spatial proteomics for precision medicine
• Mapping the “Human Protein Atlas” to understand health and disease

Robert Meltzer, PhD, Associate Principal Scientist at Illumina

• Enabling single cell RNA sequencing in any lab setup

Clive Brown, Former CTO of Oxford Nanopore Technologies

• Insights from a veteran of nanopore technology

You can watch these sessions, and all of the others, for free online!

Already thinking about your next big multiomics project?

Get in touch with one of our experts today to discover how we can scale your research to generate even greater insights.

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