Rapid Whole-Genome Sequencing in Pediatric Neurology Inpatients

Results of this cohort study suggest that rapid WGS diagnosed nearly half of pediatric neurology inpatients and changed management in two-thirds of diagnosed cases, supporting its potential use as early diagnostic testing. Associated features may guide patient selection, and reanalysis extends yield longitudinally.

Corresponding Author: Radhika Dhamija, MBBS, Department of Neurology and Clinical Genomics, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (Dhamija.Radhika@mayo.edu).

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