Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

Abstract Background It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caused by mutations in genes required for motile cilium...

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Main Authors: Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Genomics England Research Consortium, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker, Jane S. Lucas
Format: Article
Language:English
Published: BMC 2021-09-01
Series:BMC Medical Genomics
Subjects:
Primary ciliary dyskinesia
Non-CF bronchiectasis
Whole genome sequencing
Diagnosis
Gene discovery
Online Access:https://doi.org/10.1186/s12920-021-01084-w

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