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Genetic influences on cell type specific gene expression and splicing during neurogenesis elucidate regulatory mechanisms of brain traits

By Nil Ayg├╝n, Angela L Elwell, Dan Liang, Michael J. Lafferty, Kerry E. Cheek, Kenan P. Courtney, Jessica Mory, Ellie Hadden-Ford, Oleh Krupa, Luis de la Torre-Ubieta, Daniel H. Geschwind, Michael I. Love, Jason L Stein

Posted 22 Oct 2020
bioRxiv DOI: 10.1101/2020.10.21.349019

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.

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