The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis.

Massimo PifferiAttilio L BonerAngela CangiottiAlessandro CudazzoDebora MajSerena GracciAngela MichelucciVeronica BertiniMichele PiazzaAngelo ValettoMaria Adelaide CaligoDiego PeroniAndrew Bush

Published in: Pediatric pulmonology (2024)

Applying soft computing methodologies to PCD diagnostic tests optimizes their value by moving from pattern recognition to quantification. The approach may also be useful to evaluate atypical PCD, and novel genetic abnormalities of unclear disease-producing potential in the future.

Keyphrases

genome wide
copy number
current status
dna methylation
risk assessment
human health