The role of exome sequencing in childhood interstitial or diffuse lung disease
The role of exome sequencing in childhood interstitial or diffuse lung disease
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Author / Creator
Temple, Suzanna E. L. , Ho, Gladys , Bennetts, Bruce , Boggs, Kirsten , Vidic, Nada , Mowat, David , Christodoulou, John , Schultz, André , Gayagay, Thet , Roscioli, Tony , Zhu, Ying , Lunke, Sebastian , Armstrong, David , Harrison, Joanne , Kapur, Nitin , McDonald, Tim , Selvadurai, Hiran , Tai, Andrew , Stark, Zornitza and Jaffe, Adam
Publisher
London: BioMed Central Ltd
Journal title
Language
English
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Publisher
London: BioMed Central Ltd
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Scope and Contents
Contents
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 prospect...
Alternative Titles
Full title
The role of exome sequencing in childhood interstitial or diffuse lung disease
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TN_cdi_doaj_primary_oai_doaj_org_article_c0f61a3c2108429b8380ad8ac0d1db27
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c0f61a3c2108429b8380ad8ac0d1db27
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-022-02508-1
