Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

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buir.contributor.authorÇiçek, A. Ercüment
dc.citation.issueNumber14en_US
dc.citation.volumeNumber31en_US
dc.contributor.authorWerling, D. M.en_US
dc.contributor.authorPochareddy, S.en_US
dc.contributor.authorChoi, J.en_US
dc.contributor.authorAn, J.-Y.en_US
dc.contributor.authorSheppard, B.en_US
dc.contributor.authorPeng, M.en_US
dc.contributor.authorLi, Z.en_US
dc.contributor.authorDastmalchi, C.en_US
dc.contributor.authorSantpere, G.en_US
dc.contributor.authorSousa, A. M. M.en_US
dc.contributor.authorTebbenkamp, A. T. N.en_US
dc.contributor.authorKaur, N.en_US
dc.contributor.authorGulden, F. O.en_US
dc.contributor.authorBreen, M. S.en_US
dc.contributor.authorLiang, L.en_US
dc.contributor.authorGilson, M. C.en_US
dc.contributor.authorZhao, X.en_US
dc.contributor.authorDong, S.en_US
dc.contributor.authorKlei, L.en_US
dc.contributor.authorÇiçek, A. Ercümenten_US
dc.contributor.authorBuxbaum, J. D.en_US
dc.contributor.authorAdle-Biassette, H.en_US
dc.contributor.authorThomas, J.-L.en_US
dc.contributor.authorAldinger, K. A.en_US
dc.contributor.authorO’Day, D. R.en_US
dc.contributor.authorGlass, I. A.en_US
dc.contributor.authorZaitlen, N. A.en_US
dc.contributor.authorTalkowski, M. E.en_US
dc.contributor.authorRoeder, K.en_US
dc.contributor.authorState, M. W.en_US
dc.contributor.authorDevlin, B.en_US
dc.contributor.authorSanders, S. J.en_US
dc.contributor.authorSestan, N.en_US
dc.date.accessioned2021-02-19T13:30:49Z
dc.date.available2021-02-19T13:30:49Z
dc.date.issued2020-04
dc.departmentDepartment of Computer Engineeringen_US
dc.description.abstractGene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to the variation in expression, and some neuropsychiatric disorder loci may exert their effects through this mechanism. To investigate these relationships, we present BrainVar, a unique resource of paired whole-genome and bulk tissue RNA sequencing from the dorsolateral prefrontal cortex of 176 individuals across prenatal and postnatal development. Here we identify common variants that alter gene expression (expression quantitative trait loci [eQTLs]) constantly across development or predominantly during prenatal or postnatal stages. Both “constant” and “temporal-predominant” eQTLs are enriched for loci associated with neuropsychiatric traits and disorders and colocalize with specific variants. Expression levels of more than 12,000 genes rise or fall in a concerted late-fetal transition, with the transitional genes enriched for cell-type-specific genes and neuropsychiatric risk loci, underscoring the importance of cataloging developmental trajectories in understanding cortical physiology and pathology.en_US
dc.identifier.doi10.1016/j.celrep.2020.03.053en_US
dc.identifier.issn2211-1247
dc.identifier.urihttp://hdl.handle.net/11693/75503
dc.language.isoEnglishen_US
dc.publisherElsevieren_US
dc.relation.isversionofhttps://doi.org/10.1016/j.celrep.2020.03.053en_US
dc.source.titleCell Reportsen_US
dc.subjectDorsolateral prefrontal cortexen_US
dc.subjectDLPFCen_US
dc.subjectFetal transitionen_US
dc.subjectBrainVaren_US
dc.subjectPsychENCODEen_US
dc.subjectprenatal eQTLen_US
dc.subjectRHEBL1en_US
dc.subjectmTORen_US
dc.subjectLOC101926933 RP11-298I3.1 AL132780.1 ENSG00000257285en_US
dc.titleWhole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortexen_US
dc.typeArticleen_US
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