Article

Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios

2026-08-21

Abstract excerpt

RNA sequencing has improved the diagnostic yield in rare disease, yet current approaches mainly rely on short-read methods with inherent limitations caused by ambiguously or incorrectly mapped reads. Long-read RNA sequencing (lrRNA-seq) can capture full-length transcripts to resolve such ambiguities, but assessment of its application to rare diseases remains limited. Here, we generate an average of 13.4 million fu...

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Literature Corpus work: 8408048b-48ad-5a9e-8b65-75ae0dfbb38a
DOI: 10.64898/2026.08.18.26360476

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