Uncovering Hidden Genomic Variation in Rare and Complex Diseases
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Short-read sequencing techniques can miss key genomic features, such as structural variants, repeat expansions and methylation, limiting their utility in clinical research.
This webinar explores how the long, real-time reads delivered by Oxford Nanopore sequencing can resolve challenging genomic regions and detect base modifications in a single data set, providing access to previously hidden variation in rare and complex diseases.
Dr. Wendy Chung from Boston Children’s Hospital will highlight how nanopore sequencing is helping to uncover answers in unsolved rare disease cases. Dr. Nathalie Kingston and Dr. Kathy Stirrups from the NIHR BioResource will then outline how nanopore sequencing is being applied across large-scale research projects to identify previously undetected causative variation.
Attend this webinar to:
- Understand the limitations of short-read sequencing in human disease research and what new technologies can reveal
- Learn how Oxford Nanopore sequencing captures complex structural and epigenetic variation in a single, integrated workflow
- Hear how leading researchers are using nanopore technology to unlock new and actionable insights
