Filling the gaps in rare disease research with HiFi sequencing: stories from undiagnosed cohorts

Limited-time offer: access to expert perspectives on what's next for rare disease discovery and an instant download of our newest white paper on improving solve rates with HiFi sequencing.

PacBio is rebroadcasting this popular session to help clinical researchers learn how long-read sequencing is helping find explanations in rare disease cases that remain unresolved with traditional approaches.

Through real-world examples from undiagnosed cohorts, you'll discover how HiFi sequencing detects complex genetic variation and integrates multiomic data to help resolve challenging cases. Find out how these advances are shaping the future of rare disease research by moving toward more comprehensive genomic characterization and advancing long-read sequencing toward standard of care.

What you'll get:

An introduction and overview of key advantages of long-read HiFi sequencing for rare disease research
Expert stories of real-world examples where HiFi sequencing uncovered structural variants and multiomic variation underlying rare disease
Perspective on how HiFi sequencing can consolidate multiple assays and help enable adoption in clinical and translational workflows
Bonus access to our newest white paper featuring recent research, solve-rate data, and examples across rare disease cohorts

Filling the gaps in rare disease research with long-read sequencing: stories from undiagnosed cohorts

SPEAKERS