Fig. 7: Allele-specific expression sites biologically and disease-relevant information.
From: Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
a Genic locations of ASEs were highly enriched for genes with cell-biased expression in both putamen and substantia nigra. Enrichment of genes with cell-biased expression within ASE locations was performed separately for each tissue and was determined using a Fisher’s Exact test and a significance cutoff of p value < 0.05 (dashed red line at −log10(P) = 1.30). b Enrichment of heritability for Parkinson’s Disease and schizophrenia in ASEs and eQTLs identified in substantia nigra, putamen and across both tissues. Source data are provided as a Source Data file.
