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. Author manuscript; available in PMC: 2021 Jan 15.
Published in final edited form as: Biol Psychiatry. 2019 Jul 11;87(2):150–163. doi: 10.1016/j.biopsych.2019.06.029

Table 1.

Genome-wide SCZ and ASD Risk Variant Datasets Tested for BrainSpan Module Enrichment.

Dataset Reference Variant Type Description Patient N Control N Analysis
SCZ
 SCZ PGC-deCODE* 12 Common PGC + deCODE meta-analysis 36,989 113,075 MAGMA
 SCZ CLOZUK-PGC* 9 Common CLOZUK + PGC meta-analysis 40,675 64,643 MAGMA
 SCZ Richards 24 Rare Rare variants (MAF<1%) 5,585 8,103 MAGMA
 SCZ Genovese 11 Ultra-rare 43 genes enriched for deleterious ultra-rare variants (p<0.01) 4,877 6,242 Fisher’s Exact
Test
 SCZ DNM 10, 26–33 De novo Compilation of DNMs 1,139 NA DenovolyzeR
 SCZ CNV 4 CNV 13 unique loci (FDR<0.05) 21,094 20,227 Logistic Regression
ASD
 ASD iPSYCH-PGC 23 Common iPSYCH + PGC meta-analysis 18,381 27,969 MAGMA
 ASD SFARI www.sfari.org Gene list 80 literature-curated genes (score 1 or 2) NA NA Fisher’s Exact Test
 ASD Sanders 15 Rare 65 genes (FDR<0.1) 3,982 1,911 Fisher’s Exact Test
 ASD DNM 34, 35 De novo Compilation of DNMs 4,424 NA DenovolyzeR
 ASD CNV 15 CNV 9 unique loci, +3 nested loci, in SSC and AGP cohorts (FDR<0.05) 4,687 2,100 Logistic Regression
*

The PGC-deCODE meta-analysis includes 1,513 SCZ cases and 36,989 controls from the deCODE study not in the CLOZUK-PGC study and the SCZ CLOZUK-PGC meta-analysis includes 5,220 SCZ cases and 18,823 controls not in the SCZ PGC-deCODE study.