Leveraging isoform-level RNA sequencing to understand rare disease pathogenesis. @PacificBiosciences
Leveraging isoform-level RNA sequencing to understand rare disease pathogenesis. @PacificBiosciences
Uploaded March 2024 | Updated September 2026, 45 minutes ago
In this webinar, Dr. Carolina Jaramillo Oquendo, a Research Fellow at the University of Southampton, presents her analyses of rare disease samples, in collaboration with the University Hospital Southampton NHS Foundation Trust. Dr. Oquendo also discusses her groundbreaking work demonstrating how transcriptomics, utilizing the new full-length Kinnex RNA kit, has been instrumental in revealing the underlying biology in samples from individuals with rare diseases where short-read genome sequencing did not provide an explanation.

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Leveraging isoform-level RNA sequencing to understand rare disease pathogenesis.

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