Revealing hidden genomic variation in Parkinson’s and related disorders

Understanding the genetic architecture of Parkinson’s disease requires access to every layer of genomic complexity — from single-nucleotide variants to large structural changes and repeat expansions. Traditional short-read sequencing often leaves these regions unresolved. Oxford Nanopore sequencing provides a more complete picture, with long, information-rich reads that capture variation previously hidden from view.

In this webinar, experts reveal how long nanopore sequencing reads enable comprehensive characterisation of genomic variation associated with Parkinson’s disease and related neurodegenerative conditions. The session highlights how real-time, any-length sequencing can support insights into rare and complex variants, improving our understanding of disease risk and progression.

In this webinar, you will:

• Hear how Oxford Nanopore sequencing reveals genomic features missed by short-read technologies
• Discover how long, native DNA reads generated on PromethION devices enable structural variant and haplotype analysis in Parkinson’s research
• Learn how direct, real-time sequencing can support future strategies for diagnosis and treatment research
• Gain an in-depth view of the technologies driving new discoveries in neurogenetics — from ultra-long read sequencing to integrated analysis with EPI2ME workflows.

To learn more, watch two short videos featuring Dr Joanne Trinh as she discusses how scalable, high-throughput nanopore sequencing is advancing Parkinson’s research and revealing hidden genomic variation.