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

In this webinar, learn how long-read sequencing is helping researchers find explanations in rare disease cases that remain unresolved with traditional approaches.

Featuring 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.

Watch the recording to:

Understand the key advantages of long-read HiFi sequencing for rare disease research
Learn from real-world examples where HiFi sequencing uncovered structural variants and multiomic variation underlying rare disease
Gain perspective on how HiFi sequencing can consolidate multiple assays and help enable adoption in clinical and translational workflows

SPEAKERS

Nina Gonzaludo, PhD

Global Segment Lead - Clinical, Rare Disease
PacBio
Host + moderator

Ramakrishnan Rajagopalan, PhD

Director of Translational Bioinformatics, Division of Genomic Diagnostics
Children's Hospital of Philadelphia