Fig. 1: Flow scheme of the study of the performance of GS as first-tier test for neurodevelopmental disorders.
From: The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
All prospectively included patients and their parents received genome sequencing and the exome sequencing-based SOC work-up, supplemented with genomic microarray profiling and gene-by-gene testing upon request, allowing for a direct comparison of the performance of both pathways.
