Journal article
The role of exome sequencing in childhood interstitial or diffuse lung disease
SEL Temple, G Ho, B Bennetts, K Boggs, N Vidic, D Mowat, J Christodoulou, A Schultz, T Gayagay, T Roscioli, Y Zhu, S Lunke, D Armstrong, J Harrison, N Kapur, T McDonald, H Selvadurai, A Tai, Z Stark, A Jaffe
Orphanet Journal of Rare Diseases | Published : 2022
Abstract
Background: Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. We assessed the diagnostic utility of using trio exome sequencing in chILD. We prospectively enrolled children meeting specified clinical criteria between 2016 and 2020 from 16 Australian hospitals. Exome sequencing was performed with analysis of an initial gene panel followed by trio exome analysis. A subset of critically ill infants underwent ultra-rapid trio exome sequencing as first-line test. Results: 36 patients [me..
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Grants
Awarded by Channel 7 Children's Research Foundation
Funding Acknowledgements
The Australian Genomics Health Alliance (Australian Genomics) Projects, chILDRANZ Flagship Study and Acute Care Flagship Study, were funded by the National Health and Medical Research Council (GNT1113531, GNT2000001) and the Australian Government's Medical Research Future Fund. The Acute Care Flagship study was also supported by a Royal Children's Hospital Foundation Grant (2017-906), and Sydney Children's Hospital Network, Channel 7 Children's Research Foundation Grant. Research conducted at Murdoch Children's Research Institute was supported by Victorian Government's Operational Infrastructure Support Program. Chair in Genomic Medicine awarded to JC is supported by The Royal Children's Hospital Foundation.