Table 1.
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.