A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.
Mathilde Geysens, Erika L. Souche, Baroni Maria Chiara, Valérie Benoît, Beyltjens Tessi, Wouter Bossuyt, Vincent Bours, Marian Crabbe, Croes Didier, De Smet Matthias, Julie Désir, Koenraad Devriendt, Annelies Dheedene, Dimitrov Boyan Ivanov, Katrien Janssens, , Joris Robert Vermeesch
A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.
medRxiv · Oct 18, 2025 · PreprintGenetic & Genomic Medicine