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Article

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

9 Sept 2022

Abstract excerpt

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...

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PMID: 36085161
DOI: 10.1186/s13023-022-02508-1

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