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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.

Bennet PetersonEdgar Javier HernandezCharlotte HobbsSabrina Malone JenkinsBarry MooreEdwin RosalesSamuel ZouchaErica SanfordMatthew N BainbridgeErwin FriseAlbert OriolLuca BrunelliStephen F KingsmoreMark Yandell
Published in: Genome medicine (2023)
Our results indicate that an automated pipeline for selecting acutely ill infants in neonatal intensive care units (NICU) for WGS can meet or exceed diagnostic yields obtained through current selection procedures, which require time-consuming manual review of clinical notes and histories by specialized personnel.
Keyphrases
  • machine learning
  • intensive care unit
  • pregnant women
  • deep learning
  • palliative care
  • preterm infants
  • autism spectrum disorder
  • artificial intelligence
  • high throughput