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 WilliamsPublished 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.