Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations

HIGHLIGHTS

  • who: Nour Halabi from the (UNIVERSITY) have published the research work: Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations, in the Journal: (JOURNAL)
  • what: This study shows the feasibility and clinical utility of performing rWGS locally for critically ill children from this genetically underrepresented population and highlights the need for investments in pediatric genomics within local healthcare institutions, in the Middle East and globally, to deliver timely diagnoses and management.
  • how: The identification of this tetrasomy using rWGS demonstrates the additional value of this testing where exome sequencing . . .

     

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