51. An Emerging Landscape of Genomic Regions Where an Excess of Low Frequency Sequence Variants and Pathogenic CNVs are Associated With ASD and Schizophrenia Risk

We recently showed that a regional burden of functional low-frequency SNVs (MAF<5%, missense or loss-of-function) is associated with schizophrenia risk and decreased educational attainment. Genomic regions most vulnerable to SNV-excess overlapped with those recurrently affected by pathogenic-CNVs. Here, we extended our approach to autism spectrum disorders (ASD).