The next generation is here now

Children often ask, "Are we there yet?" Pediatricians should likewise inquire whether they have yet arrived at next-generation sequencing as first-line testing for children with certain conditions, such as brain anomalies. In this volume of The Journal, Heide et al drive us again to that destination. Their team screened 149 patients with both corpus callosum abnormality and intellectual disability and identified at least 1 copy number variant contributing to the phenotype in 13% of patients, plus variants of unknown significancein another 38% of patients.

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