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. Author manuscript; available in PMC: 2018 Jul 1.
Published in final edited form as: Am J Psychiatry. 2017 Oct 3;175(1):15–27. doi: 10.1176/appi.ajp.2017.17030283

Figure 2. The types of genetic variants empirically associate with severe psychiatric disorders.

Figure 2

a. Genetic causes of severe intellectual disability (ID) (58), autism spectrum disorder (ASD) (59, 60), and schizophrenia (SCZ) (61), including copy number variation (CNV), inherited known recessives, and single nucleotide variants (SNV). For severe ID, most SNV and CNV are de novo. The unknown grouping includes common variation, undiscovered rare genetic causes, phenocopies, and causation due to non-genetic effects.

b. Significant genetic associations for schizophrenia. Y-axis is log10 of odds ratio. X-axis is log10 of allele frequency in controls. Odds ratios transformed to be >1 and frequencies to be ≤ 0.5. The dots on the lower right ( Inline graphic) shows common-variant associations for schizophrenia (P<1e-8) (19). Open diamonds ( Inline graphic) show copy number variation associated with schizophrenia (34). Filled square ( Inline graphic) shows the lone variant identified using whole exome sequencing (35).