Cracking unresolved mitochondrial diseases with long-read sequencing and AI

Real-world case studies and practical insights into variant detection, bioinformatics and genomic analysis

Despite major advances in genomic sequencing, identifying complex genetic variation remains a significant challenge for researchers and clinical genomics laboratories. Conventional short-read sequencing approaches can struggle to detect structural variants, resolve complex genomic regions and uncover variation that may be critical to understanding disease.

Long-read sequencing, supported by increasingly sophisticated bioinformatics and AI tools, offers new opportunities to overcome these limitations. This webinar will explore how these technologies can enhance variant detection and interpretation, using real-world mitochondrial disease cases to demonstrate their potential applications across genomics research.

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Case study: Mitochondrial diseases provide a compelling example of the challenges involved in identifying complex genetic variation. Many suspected cases remain unresolved following conventional testing, while long-read sequencing can reveal large deletions, heteroplasmy and difficult non-coding variants that short-read approaches may miss.

In this webinar, Dr. Xiaowu Gai (Medical College of Wisconsin) will present five real-world patient cases in which long-read sequencing technology has helped resolve previously undiagnosed mitochondrial diseases, demonstrating how the technology can overcome limitations of conventional sequencing approaches, including a case unresolved for 14 years.

Dr. Gai will also explore practical sequencing workflows, bioinformatics and the use of AI tools to support genomic analysis, covering data quality, cost, turnaround time and opportunities for translational applications.

Dr. Joanna Greenhough will then present the sequencing capabilities of Oxford Nanopore Technology, including native DNA methylation detection, RNA sequencing and adaptive sampling for targeted enrichment, highlighting their potential applications across genomic research.

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In this webinar, you will:

- Develop a better understanding of how long-read sequencing can overcome the limitations of conventional sequencing approaches, revealing complex genetic variation that might otherwise remain undetected.

- Learn from real-world patient case studies demonstrating how long-read sequencing can identify challenging genetic variants, and consider how these approaches could be applied to other areas of genomic research.

- Gain practical insights into long-read sequencing workflows, bioinformatics and the use of AI tools, including considerations around data quality, cost, turnaround time and opportunities for translational applications.

- Understand how Oxford Nanopore’s PromethION can support a wide range of genomic research applications, including native methylation detection, RNA sequencing and adaptive sampling.

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Speakers

Xiaowu Gai, PhD, Professor of Pediatrics and Division Chief of Bioinformatics and Quantitative Child Health, Medical College of Wisconsin, USA

Bio: Dr. Xiaowu Gai is Professor of Pediatrics and Division Chief of Bioinformatics and Quantitative Child Health at the Medical College of Wisconsin. A geneticist and bioinformatician, his research focuses on human genetic variation in congenital disorders and paediatric cancers, contributing to the discovery of disease genes including NMNAT1 and FBXL4. Dr. Gai co-leads the International Mitochondrial Disease Sequence Resource (MSeqDR) Consortium and co-chairs ClinGen's Mitochondrial Disease Expert Panels. He previously directed bioinformatics at Children's Hospital Los Angeles, where he developed clinical genomic diagnostics, including clinical exome/genome sequencing, OncoKids® and LB4Kids, to advance precision medicine.

Joanna Greenhough, PhD, Senior Product Marketing Manager, Oxford Nanopore Technologies

Bio: Joanna Greenhough is a Senior Product Marketing Manager at Oxford Nanopore Technologies, where she focuses on how PromethION platforms can support researchers tackling large-scale and increasingly complex genomic questions. Working across product, applications and commercial teams, she helps bring these capabilities to researchers and laboratories worldwide.

She has more than 10 years of experience in product management and marketing across the life sciences and genomics industry, including roles at QIAGEN and Promega. Her experience spans molecular diagnostics, genomic products and services. She began her career in biomedical research, completing a PhD in Biomedical Sciences at the University of Southampton, followed by postdoctoral research and experience in R&D.

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This webinar has been produced with the kind support of Oxford Nanopore Technologies. You can find out more about the sequencing technologies outlined in this webinar by visiting the Oxford Nanopore Technologies website.

Oxford Nanopore Technologies products are RUO. Products labelled/branded as Oxford Nanopore Diagnostics may be RUO or may be regulated as in-vitro diagnostic devices in some jurisdictions; please check individual product labelling.