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 IasconePublished 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.