These data establish that haploinsufficency at 22q11.2 is recapitulated at the RNA expression level in our differentiating neurons and supports the validity of the RNA-seq data. We should mention that haploinsufficency at 22q11.2 could also be detected without applying the batch correction (Additional file 9). Our finding is consistent with previously studies that have also shown a 2-fold reduction of the 22q11.2 genes in both 22q11.2 DS patients and mouse models [69–71]. It is also consistent with our recently published findings that all of the miRNAs that are expressed in neurons that map to the 22q11.2 deleted region are significantly down-regulated in the patient samples vs controls [34].
