Article
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.
Science advances - 17 Apr 2026
Wang Robert, Wang Feng, DeBruyne Nicole, Ji Xinjun, Engelhardt Nicole M, Park Joseph Jee-Hwan, Notaro Amber, Gaerlan Samantha, Park Ryan, Schultz Matthew J, Clever Sheila, McCormick Elizabeth M, Keith Kelsey, Ng Bobby G, Kadash-Edmondson Kathryn E, Freeze Hudson H, Lam Christina T, Morava Eva, Helbig Ingo, Falk Marni J, Ganetzky Rebecca D, Edmondson Andrew C, Lin Lan, Xing Yi
Abstract excerpt
Diagnosing rare genetic diseases remains a major challenge despite widespread clinical testing. Long-read RNA sequencing (RNA-seq) offers a powerful approach to capturing the effects of genetic variants on the transcriptome, yet challenges with sequencing coverage, cost, tissue selection, and scalability have limited its clinical adoption. To address this, we developed STRIPE (Sequencing Targeted RNAs Identifies...
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