Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Mahmoud R FassadMitali P PatelAmelia ShoemarkThomas CullupJane HaywardMellisa DixonAndrew V RogersSarah OllossonClaire JacksonPatricia GogginRobert A HirstAndrew RutmanJames ThompsonLucy JenkinsPaul AuroraEduardo MoyaPhilip ChetcutiChris O'CallaghanDeborah J Morris-RosendahlChristopher Mark WatsonRobert WilsonSiobhan CarrWoolf WalkerAndreia PitnoSusana LopesHeba MorsyWalaa ShomanLuisa PereiraCarolina ConstantMichael R LoebingerEddie M K ChungPriti KeniaNisreen RummanNader FasseehJane S LucasClaire HoggHannah M Mitchison

Published in: Journal of medical genetics (2019)

This study shows the added value of high-throughput targeted NGS in expediting PCD diagnosis. Therefore, there is potential significant patient benefit in wider and/or earlier implementation of genetic screening.

Keyphrases

high throughput
healthcare
primary care
genome wide
cancer therapy
single cell
dna methylation
human health
risk assessment
climate change
drug delivery