Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain development is a critical epoch for neuropsychiatric disease susceptibility, we characterized the genetic control of the transcriptome in 201 mid-gestational human brains, identifying 7,962 expression quant...

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Veröffentlicht in:	Cell 2019-10, Vol.179 (3), p.750-771.e22
Hauptverfasser:	Walker, Rebecca L., Ramaswami, Gokul, Hartl, Christopher, Mancuso, Nicholas, Gandal, Michael J., de la Torre-Ubieta, Luis, Pasaniuc, Bogdan, Stein, Jason L., Geschwind, Daniel H.
Format:	Artikel
Sprache:	eng
Schlagworte:	autism Autism Spectrum Disorder - genetics Autism Spectrum Disorder - metabolism Autism Spectrum Disorder - pathology Brain - growth & development Brain - metabolism eQTL Female Fetus - metabolism Gene Expression Regulation, Developmental gene networks gene regulation Genetic Predisposition to Disease Genome-Wide Association Study Gestational Age human cortical development Humans Male Neurons - metabolism Polymorphism, Single Nucleotide - genetics Quantitative Trait Loci - genetics RNA Splicing - genetics schizophrenia Schizophrenia - genetics Schizophrenia - metabolism Schizophrenia - pathology splicing regulation sQTL Transcriptome - genetics TWAS
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