Table 1.
Descriptive Statistics for SNP Weight Sets in ASD TWAS
| Study | Tissue | Typea | Individualsb | Featuresc | ASD TWAS Significant |
|---|---|---|---|---|---|
| O'Brien (12) | Fetal brain | Gene | 67 | 831 | 2 |
| O'Brien (12) | Fetal brain | Transcript | 67 | 2865 (2295) | 6 (5) |
| CMC | Dorsolateral prefrontal cortex | Gene | 452 | 5379 | 1 |
| CMC | Dorsolateral prefrontal cortex | Splicing | 452 | 7735 (3297) | 1 |
| NTR | Peripheral blood | Gene | 1247 | 2437 | 0 |
| YFS | Whole blood | Gene | 1264 | 4657 | 2 |
| METSIM | Adipose | Gene | 563 | 4637 | 0 |
| GTEx | Caudate basal ganglia | Gene | 100 | 944 | 0 |
| GTEx | Cerebellar hemisphere | Gene | 89 | 1512 | 1 |
| GTEx | Cerebellum | Gene | 103 | 2001 | 2 |
| GTEx | Cortex | Gene | 96 | 1047 | 0 |
| GTEx | Frontal cortex BA9 | Gene | 92 | 928 | 1 |
| GTEx | Hippocampus | Gene | 81 | 539 | 0 |
| GTEx | Hypothalamus | Gene | 81 | 602 | 2 |
| GTEx | Nucleus accumbens basal ganglia | Gene | 93 | 883 | 1 |
| GTEx | Putamen basal ganglia | Gene | 82 | 633 | 0 |
| Total | — | — | — | 37,631 (13,243) | 19 (14) |
Numbers in parentheses for fetal brain transcript level and CMC dorsolateral prefrontal cortex indicate the number of unique genes.
ASD, autism spectrum disorder; BA, Brodmann area; CMC, CommonMind Consortium; GTEx, Genotype-Tissue Expression project; METSIM, Metabolic Syndrome in Men study; NTR, Netherlands Twin Registry; SNP, single nucleotide polymorphism; TWAS, transcriptome-wide association study; YFS, Young Finns Study.
Type indicates what the features for each dataset represent, i.e., gene-level expression, transcript-level expression, or splicing events.
Individuals in the reference sample used to derive the feature SNP weights.
Features included in the TWAS for each SNP weight set.