“…Besides PGS which consider cumulative risk attributable to smaller variants, interrogating the accumulation of larger structural variations also appears to be beneficial to pinpointing specific genes of interest in IDDs. For example, Glessner et al, assessed if there was evidence of increased copy number variation (CNV) burden impacting the metabotropic glutamate receptor (mGluR) network – defined as one- or two-degree protein-protein interactors of mGluR1-8 – in individuals with ASD and ADHD [ 12 ]. Well-known duplications in specific chromosomal regions that harbor genes within the mGluR network (i.e., 22q11.2, 16p11.2) as well as deletions in two mGluR network genes (i.e., CNTN4 , PRLHR ) were enriched in individuals with ASD and ADHD.…”