Turning data into answers: Rare disease case studies from clinical researchers

In this video, hear from researchers on the potential to transform Oxford Nanopore sequencing data into critical insights for rare disease through advanced tertiary analysis.

Key learnings:

• Understand how to analyse your Oxford Nanopore sequencing data with tertiary analysis platforms through an integrated workflow.

• Hear case-based examples from Bambino Gesù Children’s Hospital showing the potential for nanopore sequencing to help resolve challenging rare disease cases.

• Learn how nanopore sequencing enabled researchers at North-West University to identify a pathogenic deletion in a case of infantile Krabbe disease