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Marieke van Dooren on Muck Rack

Marieke van Dooren

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Articles

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

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By Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Sam Holt, David Bunyan, Laura Donker Kaat, Jeff J. Zhou, Sarah Ennis, John Holloway, Diana Baralle, Heather Ferrao, Herma van der Linde, Evita Karelioti, Liz Tseng, Harsharan Dhillon, Marieke van Dooren, Tjakko J. van Ham
| Nature Verified
Abstract 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 RNA-seq is unclear.
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