Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

• Published in: Journal of medical genetics Vol. 57; no. 5; pp. 322 - 330
• Main Authors: Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman, Andrew, Thompson, James, Jenkins, Lucy, Aurora, Paul, Moya, Eduardo, Chetcuti, Philip, O'Callaghan, Chris, Morris-Rosendahl, Deborah J, Watson, Christopher M., Wilson, Robert, Carr, Siobhan, Walker, Woolf, Pitno, Andreia, Lopes, Susana, Morsy, Heba, Shoman, Walaa, Pereira, Luisa, Constant, Carolina, Loebinger, Michael R., Chung, Eddie M.K., Kenia, Priti, Rumman, Nisreen, Fasseeh, Nader, Lucas, Jane S., Hogg, Claire, Mitchison, Hannah M.
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.05.2020
• Subjects: Alleles; Cilia; Defects; Diagnosis; Dyskinesia; Evolution; Families & family life; Genes; Genetic screening; Genetics; Genomes; Genomics; Hospitals; Microscopy; Mutation; Next-generation sequencing; Population genetics; Primary ciliary dyskinesia; Proteins; Software; Ultrastructure; United Kingdom > UK; United States > US; California; mutation spectrum; cilia; bronchiectasis; primary ciliary dyskinesia; population

BackgroundPrimary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests.MethodsThe diagnostic utility of multigene pane...