Cracking Unresolved Mitochondrial Diseases with Long-Read Sequencing

A free online webinar from Front Line Genomics on using long-read sequencing and AI to diagnose mitochondrial diseases that standard genetic testing has failed to explain.

Short-read sequencing misses some kinds of complex genetic variation, which leaves many patients with suspected mitochondrial disease without a diagnosis. In this 30-minute session, Professor Xiaowu Gai of the Medical College of Wisconsin walks through five patient cases where long-read sequencing found the answer, and covers the workflows, bioinformatics and AI tools behind them. He co-leads the MSeqDR Consortium and co-chairs ClinGen’s Mitochondrial Disease Expert Panels.

Dr Joanna Greenhough of Oxford Nanopore Technologies, which supports the webinar, will then outline what the company’s sequencing can do, including native DNA methylation detection, RNA sequencing and adaptive sampling.

What it covers

• Where long-read sequencing fills the gaps left by conventional methods
• Patient case studies of hard-to-detect variants
• Practical points on workflows, bioinformatics, AI tools, data quality, cost and turnaround time
• Oxford Nanopore’s PromethION platform and its uses

The focus is mitochondrial disease rather than dementia, but the methods are just as relevant to anyone using sequencing to study neurodegeneration or interested in mitochondrial medicine.

Booking

The webinar is free and runs online on Livestorm. Register through the event page to get your joining link.

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