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This research aims to assess the effectiveness of long-read RNA sequencing for detecting pathogenic splicing events in rare disorders.

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

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This research aims to assess the effectiveness of long-read RNA sequencing for detecting pathogenic splicing events in rare disorders.
Participants with suspected splice-altering variants underwent long-read RNA-seq using the Kinnex protocol.
Long-read RNA-seq was compared with short-read RNA-seq for performance evaluation.
Data processing involved the Revio instrument and the Iso-Seq workflow, classified using Pigeon.
Long-read RNA-seq captured 21 known pathogenic events and revealed additional effects in eight cases.
Novel isoforms made up about 14% of detected transcripts.
Strong concordance in transcript abundance between long-read and short-read platforms was found, with Pearson r values of 0.86 and 0.61.

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Evaluating long-read RNA-seq detects splicing events in rare disorders, suggesting improved diagnostic accuracy.

Oquendo et al. (2026) studied this question.

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