Matches in SemOpenAlex for { <https://semopenalex.org/work/W3162460339> ?p ?o ?g. }
- W3162460339 abstract "Enhancer RNAs (eRNAs) constitute an important tissue- and cell-type-specific layer of the regulome. Identification of risk variants for neuropsychiatric diseases within enhancers underscores the importance of understanding the population-level variation of eRNAs in the human brain. We jointly analyzed cell type-specific transcriptome and regulome data to identify 30,795 neuronal and 23,265 non-neuronal eRNAs, expanding the catalog of known human brain eRNAs by an order of magnitude. Examination of the population-level variation of the transcriptome and regulome in 1,382 brain samples identified reproducible changes affecting cis- and trans-co-regulation of eRNA-gene modules in schizophrenia. We show that 13% of schizophrenia heritability is jointly mediated in cis by brain gene and eRNA expression. Inclusion of eRNAs in transcriptome-wide association studies facilitated fine-mapping and functional interpretation of disease loci. Overall, our study characterizes the eRNA-gene regulome and genetic mechanisms in the human cortex in both healthy and disease states." @default.
- W3162460339 created "2021-05-24" @default.
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- W3162460339 date "2021-05-14" @default.
- W3162460339 modified "2023-10-06" @default.
- W3162460339 title "Transcribed enhancers in the human brain identify novel disease risk mechanisms" @default.
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