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Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Erica RosinaLidia PezzaniErika ApurilLaura PezzoliDaniela MarchettiMatteo BelliniCamilla LuccaCamilla MeossiMarta MassimelloMilena MarianiAgnese ScatignoElisa CattaneoLorenzo ColomboSilvia MaitzAnna CeredaDonatella MilaniLuigina SpacciniMaria Francesca BedeschiAngelo SelicorniMaria Iascone
Published in: Molecular genetics & genomic medicine (2023)
Our findings represent real-practice evidence of how first-tier genome-wide sequencing tests significantly improve the DR for paediatric outpatients with a suspected underlying genetic aetiology, thereby allowing a time-saving setting of the correct management, follow-up and family planning.
Keyphrases
  • genome wide
  • intensive care unit
  • dna methylation
  • emergency department
  • copy number
  • primary care
  • healthcare
  • pulmonary embolism
  • single cell
  • editorial comment
  • quality improvement