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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