Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Lamia Mestek-BoukhibarEmma ClementWendy D JonesSuzanne DruryLouise OcakaAndrey GagunashviliPolona Le Quesne StabejChiara BacchelliNital JaniShamima RahmanLucy JenkinsJane A HurstMaria Bitner-GlindziczMark PetersPhilip L BealesHywel J Williams

Published in: Journal of medical genetics (2018)

Rapid WGS can be used to diagnose and inform management of critically ill children within the constraints of an NHS clinical diagnostic setting. We provide a robust workflow that will inform and facilitate the rollout of rapid genome sequencing in the NHS and other healthcare systems globally.

Keyphrases

healthcare
loop mediated isothermal amplification
young adults
patient safety
single cell
intensive care unit
emergency department
gene expression
social media
dna methylation
health insurance