There are very few previous studies that have taken this sort of approach to studying CNVs in DSM diagnoses. Crespi et al.62 examined 7 highly recurrent CNVs (all included in the present analysis) implicated in ASD and schizophrenia to determine the genetic relationship between the two psychiatric disorders. The degree of overlap supported either a (1) diametric hypothesis whereby ASD and schizophrenia are on diametric ends of the diagnostic spectrum or (2) an overlapping hypothesis whereby the two disorders share some overlapping genetic risk. An alternative “subsumed” hypothesis, where ASD is a sub-category of schizophrenia was ruled out. With regard to autism and schizophrenia, our results also largely rule out the subsumed hypothesis, and are most in agreement with an overlapping hypothesis. However, with regard to ID and the remaining disorders, a subsumed hypothesis is most consistent. This is particularly so for autism and epilepsy. While schizophrenia stood out the most from ID, under broad criteria schizophrenia’s relationship with ID would be most consistent with a subsumed model as well. However, the schizophrenia specific CNVs should be interpreted with caution
