Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa

Minako Hijikata,Kozo Morimoto,Masashi Ito,Keiko Wakabayashi,Akiko Miyabayashi,Naoto Keicho

doi:10.1136/jmg-2024-110400

Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa

Minako Hijikata, Kozo Morimoto + Show 4 more

https://doi.org/10.1136/jmg-2024-110400

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Journal: Journal of Medical Genetics

Publication Date: Jan 13, 2025

#Primary Ciliary Dyskinesia #Short-read Next-generation Sequencing Technology #Aberrant Splicing Patterns #Lower Airway Infections #Detection Of Pathogenic Variants #Library Enrichment #Long-read Sequencing #Variant Calls #Amplicon Sequencing Of DNA #Airway Cells

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Primary ciliary dyskinesia (PCD, OMIM 244400) is a rare genetic disorder that affects motile cilia and is characterised by impaired mucociliary clearance of the airway epithelium, which results in chronic...

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Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa