HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders

Authors: Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, Liz Tseng, Harsharan Dhillon, Sam Holt, David J. Bunyan, Laura Donker Kaat, Marieke van Dooren, Jeff Zhou, Sarah Ennis, John W. Holloway, Tjakko J. van Ham & Diana Baralle

We evaluated the potential of PacBio long-read RNA-seq to detect pathogenic splicing events in rare disorders, comparing its performance to short-read RNA-seq...These results demonstrate that long-read RNA-seq enhances detection and interpretation of clinically relevant splicing events, supporting its integration into diagnostic workflows for rare diseases.

Journal: European Journal of Human Genetics
DOI: 10.1038/s41431-026-02042-9
Year: 2026

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