The role of exome sequencing in childhood interstitial or diffuse lung disease

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.

Citation:
Temple SEL, Ho G, Bennetts B, …….. Schultz A, Gayagay T, et al. The role of exome sequencing in childhood interstitial or diffuse lung disease. Orphanet J Rare Dis. 2022;17(1)

Keywords:
Genetics; Interstitial lung disease; Paediatric lung disease; exome; whole exome sequencing

Abstract:
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.