Summary
Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-relevant traits via gene expression and alternative splicing is mainly performed in bulk post-mortem adult tissue. However, genetic risk loci are enriched in regulatory elements of cells present during neocortical differentiation, and regulatory effects of risk variants may be masked by heterogeneity in bulk tissue. Here, we map e/sQTLs and allele specific expression in primary human neural progenitors (n=85) and their sorted neuronal progeny (n=74). Using colocalization and TWAS, we uncover cell-type specific regulatory mechanisms underlying risk for these traits.
Competing Interest Statement
The authors have declared no competing interest.
Footnotes
↵8 Lead Contact: jason_stein{at}med.unc.edu
Author affiliations updated Supplementary table 8 updated Main text for Figure 7 updated Supplementary Figure 7B updated Three references included
