A comparison of anatomic and cellular transcriptome structures across 40 human brain diseases
Fig 1
Transcriptome patterning of major brain diseases.
(A) Mean gene expression profiles for genes associated with 40 major brain diseases and disorders profiled over 104 anatomic structures (S3 Table) from 15 major regions cortex (CTX), hippocampus (HIP), amygdala (AMG), basal ganglia (BG), epithalamus (ET), thalamus (TH), ventral thalamus (VT), hypothalamus (HY), mesencephalon (MES), cerebellum (CB), pons (P), pontine nuclei (PN), myelencephalon (MY), ventricles (V), white matter (WM). Hierarchical clustering based on z-score mean profile yields 5 primary anatomic disease groups ADG 1–ADG 5. Row annotation (left bar) shows phenotypic GBD membership with color codes. Column bar annotation is 5 group ANOVA for ADG expression variability at a fixed structure. Row annotation (right bar): number of genes associated with disease (log scale). (B) Brain graphic illustrating anatomic patterning of classes ADG 1–5. (C) Reproducibility of ADG profiles. (Solid) Frequency that an ADG disease transcriptomic signature is most closely correlated with a signature from the same ADG in other subjects. (Open) Frequency that exact disease is identified in other subjects. (D) Similar analysis for diseases by phenotypic GBD groups. (Solid) Same GBD class, (Open) exact disease agreement. Underlying data for Fig 1 can be found in S1 and S2 Tables, and the data from S1 Data HBA disease files. Raw data available at http://human.brain-map.org/. Code available as a notebook at https://github.com/yasharz/human-brain-disease-transcriptomics. ADG, Anatomic Disease Group; GBD, Global Burden of Disease.