Article

HiFi Long-Read RNA Sequencing Enhances Clinical Diagnostics in Rare Disorders

2025-07-25

Abstract excerpt

<title>Abstract</title> <p> Splice-disrupting variants are estimated to account for one-third of disease-causing variants, yet many remain underrepresented in clinical databases due to limitations in detecting splicing changes beyond canonical splice sites. Short-read RNA sequencing (RNA-seq) has proved to be a valuable complement in clinical practice to address this gap, however, the added value of long-read RN...

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Literature Corpus work: 48a1c815-387a-5de0-b5fb-a6b591d36b8e
DOI: 10.21203/rs.3.rs-7046889/v1

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