We predict that this map of CNVs and potentially dosage-sensitive genes will be invaluable for both clinical and research purposes in the future. For example, Boone et al. used an exon-targeted microarray to identify a number of individual gene disruptions in individuals with ID/DD of plausible but uncertain pathogenicity given their rarity. We find support for a number of these genes, including two—CCREBBP and SLC1A1—that are significantly enriched among individuals here with similar phenotypes to those previously described (Supplementary Note). As genomic discovery efforts—especially exome sequencing—expand, the results described here should prove increasingly important to clinicians and researchers faced with the challenges of linking rare disruptive mutations to pediatric diseases.
