Table 1.
All predicted genes | Significantly predicted genes | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Brain tissue | n donors (paired blood–brain transcriptomes) | # of measured genes | % of genes measured in tissue compared to all annotated genes (GRCh38) | Mean training R2 | Mean CV R2 | Max CV R2 | # of genes | % of measured genes | % of genes measured in tissue compared to all annotated genes (GRCh38) | Mean training R2 | Mean CV R2 | Mean CV Pearson’s r |
Amygdala | 88 | 18,957 | 34 | 0.65 | 0.05 | 0.39 | 4265 | 22 | 8 | 0.70 | 0.13 | 0.36 |
Anterior cingulate cortex BA24 | 99 | 19,236 | 34 | 0.56 | 0.05 | 0.43 | 6799 | 35 | 12 | 0.59 | 0.11 | 0.33 |
Caudate basal ganglia | 137 | 20,524 | 37 | 0.46 | 0.06 | 0.38 | 10,772 | 52 | 19 | 0.50 | 0.09 | 0.30 |
Cerebellum (Fresh frozen) | 131 | 20,540 | 37 | 0.48 | 0.06 | 0.5 | 9573 | 47 | 17 | 0.53 | 0.11 | 0.33 |
Cerebellum (PAXgene preserved) | 154 | 21,494 | 38 | 0.42 | 0.05 | 0.39 | 10,098 | 47 | 18 | 0.47 | 0.09 | 0.30 |
Frontal cortex (PAXgene preserved) | 141 | 20,340 | 36 | 0.42 | 0.06 | 0.5 | 10,186 | 50 | 18 | 0.46 | 0.10 | 0.32 |
Frontal Cortex (Fresh frozen) | 125 | 19,983 | 36 | 0.49 | 0.07 | 0.5 | 11,816 | 59 | 21 | 0.53 | 0.11 | 0.33 |
Hippocampus | 122 | 20,189 | 36 | 0.47 | 0.03 | 0.46 | 4008 | 20 | 7 | 0.53 | 0.10 | 0.32 |
Hypothalamus | 114 | 20,839 | 37 | 0.50 | 0.04 | 0.56 | 5749 | 28 | 10 | 0.56 | 0.11 | 0.33 |
Nucleus accumbens basal ganglia | 148 | 20,884 | 37 | 0.43 | 0.05 | 0.46 | 11,252 | 54 | 20 | 0.47 | 0.09 | 0.30 |
Putamen basal ganglia | 125 | 19,330 | 34 | 0.49 | 0.06 | 0.54 | 10,350 | 54 | 18 | 0.53 | 0.11 | 0.33 |
Substantia nigra | 86 | 18,882 | 34 | 0.62 | 0.04 | 0.51 | 2947 | 16 | 5 | 0.69 | 0.14 | 0.37 |
The proportion of genes expressed in the whole blood accounts for 31% of all genes annotated in the GRCh38 genome assembly. The criteria for declaring genes “significantly predicted” is as follows: cross-validation [CV] R2 ≥ 0.01, CV FDRp ≤ 0.05. The total number of genes detected in each brain tissue for which BrainGENIE models were trained appears in the third column (“# of genes”). The proportion of genes that were significantly predicted by BrainGENIE from the total number of detected genes per brain tissue is presented in the ninth column (“% of genes”).