{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001003100"],"sample_count":["65"],"description":["EGA dataset EGAD00001003100"],"repository":["EGA"],"title":["UKBEC 1st release of Exome data for 65 individuals"],"pubmed_abstract":["Germ-line genetic control of gene expression occurs via expression quantitative trait loci (eQTLs). We present a large, exon-specific eQTL data set covering ten human brain regions. We found that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons. Co-regulation analysis of shared eQTL signals produced well-defined modules of region-specific co-regulated genes, in contrast to standard coexpression analysis of the same samples. We report cis-eQTL signals for 23.1% of catalogued genome-wide association study hits for adult-onset neurological disorders. The data set is publicly available via public data repositories and via http://www.braineac.org/. Our study increases our understanding of the regulation of gene expression in the human brain and will be of value to others pursuing functional follow-up of disease-associated variants."],"pubmed_title":["Genetic variability in the regulation of gene expression in ten regions of the human brain."],"pubmed_authors":["Ramasamy Adaikalavan A, Trabzuni Daniah D, Guelfi Sebastian S, Varghese Vibin V, Smith Colin C, Walker Robert R, De Tisham T, Coin Lachlan L, de Silva Rohan R, Cookson Mark R MR, Singleton Andrew B AB, Hardy John J, Ryten Mina M, Weale Michael E ME"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-UKBEC-30-11-2016-15:16:48:139-418 - samples","description":"UKBEC 1st release of Exome data for 65 neuropathologically confirmed control individuals of European descent.","dates":{"updated":"2021-04-30 08:23:20"},"accession":"EGAD00001003100","cross_references":{"TAXONOMY":["9606"],"pubmed":["25174004"],"EGA":["EGAC00001000314","EGAS00001002113"]}}