PacBio to Provide HiFi Sequencing for over 1,000 Rare-Disease Cases in 14 Countries
PacBio will integrate its HiFi long-read whole-genome sequencing into iHope’s network spanning 25 clinical sites across 14 countries, supporting over 1,000 rare disease patients annually. The collaboration aims to enhance diagnostic clarity by detecting previously missed variants and strengthen research into precision therapies starting early 2026.
1. Partnership Overview
PacBio will integrate its HiFi long-read whole-genome sequencing into the global iHope rare-disease genomics program, which spans 25 clinical sites across 14 countries and supports over 1,000 patients annually. This marks PacBio’s first long-read sequencing partnership within the world’s largest equitable rare-disease testing network.
2. Diagnostic Capabilities
The collaboration aims to expand the range of genomic insights by enabling detection of complex and previously missed variants in challenging regions of the genome. Enhanced variant discovery is expected to improve diagnostic yield for patients with unresolved rare genetic disorders across iHope’s sites.
3. Future Research and Timeline
Integration of PacBio HiFi sequencing into the iHope network is scheduled to begin in early 2026. Both organizations plan joint research into precision therapeutic approaches, including antisense oligonucleotide strategies, supported by a shared learning environment across all clinical and laboratory sites.