The role of exome sequencing in childhood interstitial or diffuse lung disease
Suzanna E.L. Temple, Gladys Ho, Bruce Bennetts +17 more2022Orphanet Journal of Rare DiseasesJournal Article
Respiratory/Sinus
Abstract
Trio exomes (6/36; 16.7%) had a better diagnostic rate than gene panel (1/36; 2.8%), due to the ability to consider a broader range of underlying conditions. However, the aetiology of chILD in most cases remained undetermined, likely reflecting the interplay between low penetrant genetic and environmental factors.
Part of CIRS Nexus · Curated by Lauren Lowenstein, The Biotoxin Lady
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