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Article

Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis.

American journal of human genetics - 2 Sept 2021

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

Abstract excerpt

Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-relevant traits via gene expression and alternative splicing quantitative trait locus (e/sQTL) analyses is generally performed in bulk post-mortem adult tissue. However, genetic risk loci are enriched in regulatory elements active during neocortical differentiation, and regulatory effects of risk variants may be masked...

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Identifiers

PMID: 34416157
DOI: 10.1016/j.ajhg.2021.07.011
PMCID: PMC8456186

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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