Rare disease · Blood and fibroblasts
Characterize splicing variants in rare disease
Jaramillo Oquendo, Ferraro, and colleagues ran Kinnex full-length RNA sequencing on blood and fibroblast samples from 25 people with suspected splice-altering variants, then compared the results against short-read RNA sequencing of the same participants.
Long reads confirmed 21 known splicing events and added transcript-level detail in eight cases, including intron retention, multiple exon skipping, leaky splicing, variant phasing, and isoform switching.
What this means for your study: Long-read RNA-seq improves identification and interpretation of clinically relevant splicing events in rare disease cohorts.
Jaramillo Oquendo et al., European Journal of Human Genetics, 2026. Peer-reviewed; includes PacBio co-authors. A study of an earlier workflow, not a benchmark for the SPRQ-Nx specifications below.
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