Cell-Type Specific Genetic Influences On Gene Regulation During Human Neocortical Differentiation

BIOLOGICAL PSYCHIATRY(2021)

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摘要
Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-relevant traits via chromatin accessibility and gene expression is mainly performed in bulk post-mortem adult brain tissue. However, genetic risk loci are enriched in cell types relevant for neocortical differentiation that are not present in the adult brain, and regulatory effects of risk variants may be masked by heterogeneity in bulk tissue.
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关键词
GWAS, Expression Quantitative Trait Loci (eQTL), Chromatin, Functional Genomics
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